ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.2506C>T (p.Arg836Ter) (rs761796175)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482545 SCV000567251 pathogenic not provided 2015-07-28 criteria provided, single submitter clinical testing The R836X non-sense variant in the COL6A3 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R836X mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R836X as a pathogenic variant.
Invitae RCV000704208 SCV000833147 pathogenic Bethlem myopathy 1 2018-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg836*) in the COL6A3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761796175, ExAC 0.002%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 419449). Loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 20976770). For these reasons, this variant has been classified as Pathogenic.

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