ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)

gnomAD frequency: 0.00001  dbSNP: rs775853003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762587 SCV000892920 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing COL5A1: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002234126 SCV001214428 benign Ehlers-Danlos syndrome, classic type, 1 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000762587 SCV001804116 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing 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 (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272, 32024714)

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