ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=)

dbSNP: rs367804791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235177 SCV001711492 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000868877 SCV001803035 likely benign not provided 2019-11-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279581 SCV002565735 likely benign Ehlers-Danlos syndrome 2020-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169153 SCV003913576 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003895292 SCV004715866 likely benign COL5A1-related disorder 2022-01-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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