ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)

dbSNP: rs2123664803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894141 SCV002127344 pathogenic Bethlem myopathy 1A 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL6A2-related conditions. This sequence change creates a premature translational stop signal (p.Gln781*) in the COL6A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1358090). For these reasons, this variant has been classified as Pathogenic.

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