ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter)

dbSNP: rs587779607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181122 SCV000233398 pathogenic not provided 2024-11-04 criteria provided, single submitter clinical testing Identified in a patient belonging to a cohort of individuals with vascular Ehlers-Danlos syndrome in published literature (PMID: 24922459); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24922459)
Labcorp Genetics (formerly Invitae), Labcorp RCV000087562 SCV000829906 pathogenic Ehlers-Danlos syndrome, type 4 2023-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg326*) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Ehlers-Danlos syndrome, type IV (PMID: 24922459). ClinVar contains an entry for this variant (Variation ID: 101324). For these reasons, this variant has been classified as Pathogenic.
Collagen Diagnostic Laboratory, University of Washington RCV000087562 SCV000120452 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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