ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7653G>A (p.Thr2551=)

dbSNP: rs368803197
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080764 SCV000112666 likely benign not specified 2014-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080764 SCV000270132 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing p.Thr2551Thr in exon 52 of DMD: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (12/10124) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.; dbSNP rs368803197).
Invitae RCV001080502 SCV000288070 benign Duchenne muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000080764 SCV000516843 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV002274910 SCV001155953 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing DMD: BP4, BP7
Illumina Laboratory Services, Illumina RCV001169691 SCV001332451 uncertain significance Dilated cardiomyopathy 3B 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002390235 SCV002670721 benign Cardiovascular phenotype 2018-10-18 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV004542780 SCV004776194 likely benign DMD-related disorder 2022-10-26 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. RCV001826760 SCV002087741 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-24 no assertion criteria provided clinical testing

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