ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.928_930+23del

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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 RCV003631789 SCV004490282 likely pathogenic Bethlem myopathy 1A 2023-09-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL6A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 11 (c.928_930+23del) of the COL6A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL6A1 are known to be pathogenic (PMID: 19884007, 20976770). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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