ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs)

dbSNP: rs2123490954
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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 RCV002541183 SCV003453882 likely pathogenic Bethlem myopathy 1A 2022-11-24 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the COL6A1 protein. Other variant(s) that disrupt this region (p.Leu941Alafs*34) have been observed in individuals with COL6A1-related conditions (PMID: 33250842). This suggests that this may be a clinically significant region of the protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1324136). 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 sequence change creates a premature translational stop signal (p.Leu786Thrfs*51) in the COL6A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 243 amino acid(s) of the COL6A1 protein. 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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