In the pedigree, the type of most subjects is sensorineural hearing loss that presents binaural symmetrical decrease, and one patient has severe hearing loss in the right ear and normal hearing in the left ear. Male patients onset age is earlier than female patients, male patients onset age is 7-years-old , and female patients onset age is more than 30-years-old. The serious rate of hearing loss in male patients is more than that in female patients. Male patients were fast progressive hearing loss, to the age of twenty, they have developed severe sensorineural hearing loss. Female patients hearing declined slowly, they present with sever hearing loss at 45-50years old. The hearing loss in those patients appears to affect from high and middle frequencies to all frequencies. The X-linked dominance pattern of inheritance was detected based on the absence of male-to-male transmission, early onset and a more severe phenotype in males than in females.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- May 10, 2018
- Most recent Submission:
- May 10, 2018
- Last evaluated:
- Oct 1, 2017
- Accession:
- VCV000444056.2
- Variation ID:
- 444056
- Description:
- 1bp duplication
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NM_014332.3(SMPX):c.87dup (p.Gly30fs)
- Allele ID
- 437698
- Variant type
- Duplication
- Variant length
- 1 bp
- Cytogenetic location
- Xp22.12
- Genomic location
- X: 21743794-21743795 (GRCh38) GRCh38 UCSC
- X: 21761912-21761913 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_014332.3:c.87dup MANE Select NP_055147.1:p.Gly30fs frameshift NR_045617.2:n.274dup non-coding transcript variant NC_000023.11:g.21743795dup NC_000023.10:g.21761913dup NG_031916.1:c.87dupA NG_031916.1:g.19366dup LRG_1358:g.19366dup LRG_1358t1:c.87dup LRG_1358p1:p.Gly30fs - Protein change
- G30fs
- Other names
- -
- Canonical SPDI
- NC_000023.11:21743794:T:TT
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs1569308571
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Oct 1, 2017 | RCV000626484.9 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Oct 01, 2017)
|
no assertion criteria provided
Method: research
|
(X-linked dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Yong Feng Lab, Central South University
Accession: SCV000607737.1
First in ClinVar: May 10, 2018 Last updated: May 10, 2018 |
Comment:
In the pedigree, the type of most subjects is sensorineural hearing loss that presents binaural symmetrical decrease, and one patient has severe hearing loss in … (more)
In the pedigree, the type of most subjects is sensorineural hearing loss that presents binaural symmetrical decrease, and one patient has severe hearing loss in the right ear and normal hearing in the left ear. Male patients onset age is earlier than female patients, male patients onset age is 7-years-old , and female patients onset age is more than 30-years-old. The serious rate of hearing loss in male patients is more than that in female patients. Male patients were fast progressive hearing loss, to the age of twenty, they have developed severe sensorineural hearing loss. Female patients hearing declined slowly, they present with sever hearing loss at 45-50years old. The hearing loss in those patients appears to affect from high and middle frequencies to all frequencies. The X-linked dominance pattern of inheritance was detected based on the absence of male-to-male transmission, early onset and a more severe phenotype in males than in females. (less)
Observation 1:
Number of individuals with the variant: 12
Clinical Features:
Progressive sensorineural hearing impairment (present)
Zygosity: 6 Single Heterozygote, 6 Hemizygote
Sex: mixed
Ethnicity/Population group: chinese
Geographic origin: Hunan province, China
Method: The whole exome sequencing was performed on the proband from a large chinese family of genetic nonsyndromic Hearing loss, with a total of 4 generations and 59 people, including 13 patients. The data combining the clinical characteristics, genetic model and the known deafness genes were analyzed. The suspected mutation and the phenotype verified to be co-segregation in the pedigree. And the mutation did not found in 576 normal Chinese people.
Testing laboratory: Yong Feng Lab
Date variant was reported to submitter: 2017-10-18
Testing laboratory interpretation: Pathogenic
Observation 2:
Clinical Features:
Progressive sensorineural hearing impairment (present)
Indication for testing: Pure-Tone Audiometry
Zygosity: 1 Hemizygote
Sex: female
Ethnicity/Population group: Chinese
Geographic origin: Hunan province China
Method: The whole exome sequencing was performed on the proband from a large chinese family of genetic nonsyndromic Hearing loss, with a total of 4 generations and 59 people, including 13 patients. The data combining the clinical characteristics, genetic model and the known deafness genes were analyzed. The suspected mutation and the phenotype verified to be co-segregation in the pedigree. And the mutation did not found in 576 normal Chinese people.
Testing laboratory: Sanger Seqencing
Date variant was reported to submitter: 2017-10-01
Testing laboratory interpretation: Pathogenic
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1569308571...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 25, 2023