ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)

gnomAD frequency: 0.00001  dbSNP: rs761036527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241977 SCV001508068 benign Ehlers-Danlos syndrome, classic type, 1 2024-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001537164 SCV001754012 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); 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 has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
AiLife Diagnostics, AiLife Diagnostics RCV001537164 SCV002502064 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing

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