ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn)

dbSNP: rs863223462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196237 SCV000249856 uncertain significance not provided 2021-11-30 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 (Lek et al., 2016); In silico analysis supports 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 (Symoens et al., 2012; Stenson et al., 2014); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV005089993 SCV005768653 benign Ehlers-Danlos syndrome, classic type, 1 2024-07-12 criteria provided, single submitter clinical testing

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