ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)

dbSNP: rs398123981
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080648 SCV000112550 pathogenic not provided 2017-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000177912 SCV000255733 pathogenic Duchenne muscular dystrophy 2013-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177912 SCV000826146 pathogenic Duchenne muscular dystrophy 2024-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1763*) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with dystrophinopathy (PMID: 16770791, 17041906, 19937601, 21515508, 21851881, 23536893, 27593222). ClinVar contains an entry for this variant (Variation ID: 94658). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000065 SCV000883728 pathogenic not specified 2018-07-16 criteria provided, single submitter clinical testing The p.Arg1763Ter variant (rs398123981) has been reported in the medical literature in multiple individuals diagnosed with Duchenne or Becker muscular dystrophy (Cho 2017, Deburgrave 2007, Flanigan 2009, Juan-Mateu 2013, and Mah 2011), and it is classified as pathogenic in ClinVar (Variant ID: 94658). The p.Arg1763Ter variant is absent from general population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. Nonsense variants in DMD are typically associated with the more severe Duchenne muscular dystrophy; however, the p.Arg1763Ter variant is most often found in patients with the more mild Becker muscular dystrophy. This appears to be explained by the in-frame skipping of exon 37 in patients who harbor this variant (Deburgrave 2007 and Juan-Mateu 2013). Therefore, based on the available evidence, the p.Arg1763Ter variant is classified as pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198765 SCV001369760 pathogenic Dilated cardiomyopathy 3B 2020-03-18 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4. This variant was detected in hemizygous state.
Revvity Omics, Revvity RCV000080648 SCV002019802 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826753 SCV002093514 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-03-31 no assertion criteria provided clinical testing

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