ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=)

dbSNP: rs998985081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913458 SCV001058606 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029364 SCV005032234 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-06 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 RCV003923191 SCV004746544 likely benign COL5A1-related disorder 2019-05-08 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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