ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met)

gnomAD frequency: 0.00004  dbSNP: rs201771867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198173 SCV000249917 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229078 SCV000631530 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336527 SCV002639586 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-10 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.

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