ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)

gnomAD frequency: 0.00002  dbSNP: rs764727126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220842 SCV001392854 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271631 SCV002555873 uncertain significance not specified 2022-06-14 criteria provided, single submitter clinical testing Variant summary: COL12A1 c.1741C>T (p.Arg581Cys) results in a non-conservative amino acid change located in the von Willebrand factor, type A domain (IPR002035) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 249376 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1741C>T in individuals affected with Bethlem Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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