ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1591del (p.Arg531fs)

dbSNP: rs2077819120
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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 RCV001051695 SCV001215863 pathogenic Bethlem myopathy 1A 2019-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg531Glyfs*6) in the COL6A1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. 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 with COL6A1-related conditions. This variant is not present in population databases (ExAC no frequency).

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