ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)

gnomAD frequency: 0.00021  dbSNP: rs201736323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153086 SCV000202542 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000704454 SCV000833404 likely benign Bethlem myopathy 1A 2025-01-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000153086 SCV003832576 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700477 SCV005204192 uncertain significance not specified 2024-06-20 criteria provided, single submitter clinical testing Variant summary: COL6A2 c.2528G>A (p.Arg843Gln) results in a conservative amino acid change located in the von Willebrand factor, type A domain (IPR002035) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 239254 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in COL6A2 causing Collagen Type VI-Related Disorders, allowing no conclusion about variant significance. c.2528G>A has been reported in the literature in the heterozygous state in an individual affected with Bethlem myopathy (Foley_2013), in a compound heterozygous individual with a suspected muscle disorder who underwent multigene panel testing and also had compound heterozygous variants in the CAPN3 gene (Thuriot_2020), and in an individual affected with Down syndrome who had atrioventricular septal defect (Ackerman_2012). These reports do not provide unequivocal conclusions about association of the variant with Collagen Type VI-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23040494, 24271325, 32337335). ClinVar contains an entry for this variant (Variation ID: 166934). Based on the evidence outlined above, the variant was classified as uncertain significance.

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