ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)

gnomAD frequency: 0.00010  dbSNP: rs200213555
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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) RCV000394586 SCV000337854 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547718 SCV000625894 benign Duchenne muscular dystrophy 2025-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000394586 SCV000711685 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing p.Trp1265Ser in exon 28 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (24/6585) of East Asian chromo somes, including 6 hemizygotes, by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs200213555).
Illumina Laboratory Services, Illumina RCV001169829 SCV001332608 uncertain significance Dilated cardiomyopathy 3B 2017-12-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795483 SCV002035914 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795483 SCV002037940 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001835753 SCV002085404 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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