ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.44del (p.Asp15fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV001264787 SCV001443089 pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The c.44del variant has been reported in Leiden Open (source) Variation Database (LOVD) version 3.0 ( ) to be classified as pathogenic evidence.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287355 SCV001474030 likely pathogenic none provided 2020-02-26 criteria provided, single submitter clinical testing The DMD c.44delA; p.Asp15ValfsTer11 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide. Although such variants often result in a truncated protein or mRNA subject to nonsense-mediated decay, due to its early occurrence in the gene a downstream alternative start codon is a possibility. Witting et al (2013) identified a similar variant, p.Gln17Ter, in a patient with Becker muscular dystrophy and quantified a normal amount of mRNA transcripts. Without functional studies, the specific effect of c.44delA is uncertain. However, several nearby truncating variants have been described in individuals with Duchenne and Becker muscular dystrophy and are considered pathogenic (Juan-Mateu 2013, Taylor 2007, Witting 2013). Based on available information, the c.44delA variant is considered to be likely pathogenic. References: Juan-Mateu J et al. Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PLoS One. 2013;8(3):e59916. Taylor PJ et al. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. J Med Genet. 2007 Jun;44(6):368-72. Witting N et al. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscul Disord. 2013 Jan;23(1):25-8.

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