ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)

dbSNP: rs201379514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240305 SCV001209609 benign Ehlers-Danlos syndrome, classic type, 1 2023-08-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509380 SCV001716056 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing BS1, PP3
GeneDx RCV001509380 SCV002007210 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)

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