ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val)

gnomAD frequency: 0.00022  dbSNP: rs138068984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705096 SCV000249855 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing 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); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002315553 SCV000738655 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002229065 SCV000755970 benign Ehlers-Danlos syndrome, classic type, 1 2024-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705096 SCV005190575 uncertain significance not provided criteria provided, single submitter not provided

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