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NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 19, 2021)
Last evaluated:
Sep 7, 2017
Accession:
VCV000056907.6
Variation ID:
56907
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)

Allele ID
71513
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237361138 (GRCh38) GRCh38 UCSC
2: 238269781 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_473:g.58070G>A
LRG_473t1:c.6193G>A
NC_000002.11:g.238269781C>T
... more HGVS
Protein change
G2065S, G1458S, G1859S
Other names
-
Canonical SPDI
NC_000002.12:237361137:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA215987
dbSNP: rs397515332
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Sep 7, 2017 RCV000050245.11
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A3 - - GRCh38
GRCh37
1871 1974

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Sep 07, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000620625.2
Submitted: (Jan 29, 2019)
Comment:
The G2065S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G2065S … (more)
Likely pathogenic
(May 03, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD, LLC
Accession: SCV000331198.4
Submitted: (Jun 30, 2017)
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3
Number of individuals with the variant: 3
Zygosity: 3 Single Heterozygote
Sex: mixed
Likely pathogenic
(Aug 27, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002023347.1
Submitted: (Nov 19, 2021)

Functional evidence

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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

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Text-mined citations for rs397515332...

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These 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 Jan 22, 2022