ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr)

gnomAD frequency: 0.00018  dbSNP: rs150083065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198812 SCV000249923 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229080 SCV000820761 likely benign Ehlers-Danlos syndrome, classic type, 1 2025-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000198812 SCV001716055 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345699 SCV002645916 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-10-06 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.

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