ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.955-2A>C

dbSNP: rs1555873084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002254414 SCV002525560 pathogenic Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 2022-05-18 criteria provided, single submitter clinical testing The c.955-2A>C variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was previously identified in similarly affected patients, published in literatures (PMID: 34167565, 29419890, 27453230, 20976770, 18366090, 15689448) and reported to Human Genome Mutation Database (HGMD ID: CS050380). In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, HSF3.1 etc. predicted this variant to be likely deleterious. Different algorithms to predict mRNA splicing abnormalities, predicted this variant to potentially affect splicing.

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