ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)

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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 RCV001034708 SCV001189954 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.5246delA variant is a frameshift 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 MutationTaster2, CADD etc. predicted this variant to be likely deleterious by creating a premature stop codon that may ultimately result into a truncated protein or absence of protein due to nonsense mediated decay of the mRNA. The variant has been identified along with another heterozygous splice-site variant in this gene (NM_001130976.2:c.144+1G>A), that may alter splicing. The variant has been classified as pathogenic as per ACMG guidelines.

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