ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1059del (p.Asp354fs)

dbSNP: rs1555873508
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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 RCV000653505 SCV000775386 pathogenic Bethlem myopathy 1A 2018-03-09 criteria provided, single submitter clinical testing Loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). This variant has not been reported in the literature in individuals with COL6A2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp354Thrfs*54) in the COL6A2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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