ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter) (rs763187844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543703 SCV000657410 pathogenic Bethlem myopathy 1 2019-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 26 (p.Gln26*) of the COL6A3 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in COL6A3 are known to be pathogenic (PMID: 20976770). This variant has been identified in the homozygous state in a patient with early onset and severe myopathy (PMID: 20976770). For these reasons, this variant has been classified as Pathogenic.

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