ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2469_2476del (p.Val824fs)

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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 RCV005111119 SCV005731212 pathogenic Bethlem myopathy 1A 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val824Serfs*17) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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