ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5827A>G (p.Met1943Val)

gnomAD frequency: 0.00002  dbSNP: rs181849614
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080673 SCV000112575 uncertain significance not provided 2013-12-16 criteria provided, single submitter clinical testing
Invitae RCV001086404 SCV001009114 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169757 SCV001332530 uncertain significance Dilated cardiomyopathy 3B 2017-06-14 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.
Ambry Genetics RCV002354277 SCV002650797 likely benign Cardiovascular phenotype 2019-05-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004542778 SCV004761363 likely benign DMD-related disorder 2024-02-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001831862 SCV002093452 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-31 no assertion criteria provided clinical testing

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