ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)

dbSNP: rs745585519
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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 RCV001799532 SCV002043748 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2021-07-13 criteria provided, single submitter clinical testing The c.3256A>T variant is not present in publicly available population databases like Exome Variant Server (EVS), 1000 Genomes, Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was earlier identified in DMD patients [PMID:18846679] and reported to Human Genome Mutation Database (HGMD ID: HM080054). In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, InterVar etc. predicted this variant to be likely deleterious.

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