ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.310dup (p.Thr104fs)

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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 RCV003518171 SCV004264289 pathogenic Bethlem myopathy 1A 2023-09-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr104Asnfs*48) in the COL6A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A1 are known to be pathogenic (PMID: 19884007, 20976770). This variant has not been reported in the literature in individuals affected with COL6A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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