ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118493 SCV003786666 pathogenic Ehlers-Danlos syndrome, type 4 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2419968). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1082*) 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). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003443166 SCV004168137 likely pathogenic not provided 2023-11-09 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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