ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)

gnomAD frequency: 0.00007  dbSNP: rs368234550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601464 SCV000724750 likely benign not specified 2017-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002232732 SCV001605545 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331062 SCV002629070 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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