ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4714del (p.Val1572fs)

dbSNP: rs2132883536
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956546 SCV002244445 pathogenic Ehlers-Danlos syndrome, classic type, 1 2021-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1572Serfs*47) in the COL5A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Ehlers-Danlos syndrome, classical type (PMID: 23587214). For these reasons, this variant has been classified as Pathogenic.

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