NC_012920.1:m.14582A>G AND Leigh syndrome

Clinical significance:Benign (Last evaluated: Oct 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000855131.1

Allele description [Variation Report for NC_012920.1:m.14582A>G]

NC_012920.1:m.14582A>G

Gene:
MT-ND6:mitochondrially encoded NADH dehydrogenase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.14582A>G
HGVS:
  • NC_012920.1:m.14582A>G
  • NC_012920.1:m.14582A>G
  • NC_012920.1:m.14582A>G
  • YP_003024037.1:p.Val31Ala
Protein change:
V31A
Links:
dbSNP: rs41354845
NCBI 1000 Genomes Browser:
rs41354845

Condition(s)

Name:
Leigh syndrome (LS)
Synonyms:
Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000998181Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicinecriteria provided, single submitter
Benign
(Oct 17, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000998181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The NC_012920.1:m.14582A>G (YP_003024037.1:p.Val31Ala) variant in MTND6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center