ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)

gnomAD frequency: 0.00001  dbSNP: rs1416475329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541712 SCV000657238 likely benign Bethlem myopathy 1A 2024-08-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144370 SCV003834581 uncertain significance not provided 2020-04-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701649 SCV005202951 uncertain significance not specified 2024-07-23 criteria provided, single submitter clinical testing Variant summary: COL6A3 c.1061G>A (p.Ser354Asn) results in a conservative amino acid change located in the von Willebrand factor, type A (IPR002035) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 250956 control chromosomes. 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.1061G>A in individuals affected with Ullrich Congenital Muscular Dystrophy 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 476499). Based on the evidence outlined above, the variant was classified as uncertain significance.

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