ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)

gnomAD frequency: 0.00004  dbSNP: rs377632042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037083 SCV001200480 pathogenic Bethlem myopathy 1 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 836050). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This variant is present in population databases (rs377632042, gnomAD 0.04%). This sequence change creates a premature translational stop signal (p.Ser721*) in the COL6A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 26004199).
GeneDx RCV002245838 SCV002512825 uncertain significance not provided 2022-04-19 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; Has not been previously published as pathogenic or benign to our knowledge

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