ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.336G>A (p.Trp112Ter)

dbSNP: rs398123936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080574 SCV000112476 pathogenic not provided 2013-11-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000080574 SCV002049939 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing The DMD c.336G>A; p.Trp112Ter variant (rs398123936) is reported in the literature and gene specific databases in multiple individuals affected with Becker or intermediate muscular dystrophy (Ma 2018, Torella 2020). The variant is reported in the ClinVar database (Variation ID: 94585) and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Ma P et al. Comprehensive genetic characteristics of dystrophinopathies in China. Orphanet J Rare Dis. 2018 Jul 4;13(1):109. PMID: 29973226 Torella A et al. The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. PLoS One. 2020 Aug 19;15(8):e0237803. PMID: 32813700 The UMD TREAT-NMD DMD mutations database: http://umd.be/TREAT_DMD/4DACTION/WVP/112*DMD LOVD: https://databases.lovd.nl/shared/variants/DMD?search_position_c_start=336&search_position_c_start_intron=0&search_position_c_end=336&search_position_c_end_intron=0&search_vot_clean_dna_change=%3D%22c.336G%3EA%22&search_transcriptid=00000024

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