ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.147+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology RCV001249863 SCV001189953 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2020-03-06 criteria provided, single submitter clinical testing The c.147+1G>A variant is a splice-site variant and not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC) and Genome Aggregation Database (gnomAD). The variant is not present in our in-house exome database. The variant was not reported earlier to OMIM, ClinVar or Human Genome Mutation Database (HGMD) in other affected individuals. In-silico pathogenicity prediction programs like HSF3, MutationTaster2, CADD etc. predicted this variant to be likely deleterious by altering splicing. The variant has been identified along with another heterozygous variant in this gene (NM_001130987.2:c.5246delA), that causes a frameshift in exon 46. The variant has been classified as pathogenic as per ACMG guidelines.

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