ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7521C>T (p.Asn2507=)

gnomAD frequency: 0.00020  dbSNP: rs112516305
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725558 SCV000337772 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000725558 SCV000512811 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Invitae RCV001083787 SCV000560824 benign Duchenne muscular dystrophy 2024-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000304326 SCV000711680 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing p.Asn2507Asn in exon 51 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 27/47762 European chromosomes, including 8 hemizygotes, by the Exome Aggregation Consortium (ExAC,; dbSNP rs112516305).
Ambry Genetics RCV000619872 SCV000735464 likely benign Cardiovascular phenotype 2016-08-04 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.
Illumina Laboratory Services, Illumina RCV001165704 SCV001327934 uncertain significance Dilated cardiomyopathy 3B 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
PreventionGenetics, part of Exact Sciences RCV004543055 SCV004770827 likely benign DMD-related disorder 2020-02-04 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. RCV001833338 SCV002087758 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-10-18 no assertion criteria provided clinical testing

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