ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser)

gnomAD frequency: 0.00003  dbSNP: rs551016059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700583 SCV000249871 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002228852 SCV001484116 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327032 SCV002633719 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-11-27 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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