ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5265C>T (p.Pro1755=)

gnomAD frequency: 0.00124  dbSNP: rs145515413
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216201 SCV000268964 benign not specified 2015-07-29 criteria provided, single submitter clinical testing p.Pro1755Pro in exon 37 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 0.4% (33/8515) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs145515413).
Eurofins Ntd Llc (ga) RCV000216201 SCV000335437 likely benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV000460598 SCV000560814 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001753641 SCV000714568 benign not provided 2021-08-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV000622204 SCV000737011 likely benign Cardiovascular phenotype 2016-11-08 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.
Athena Diagnostics RCV000216201 SCV001879912 benign not specified 2021-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001753641 SCV004164729 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing DMD: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004530269 SCV004737476 likely benign DMD-related disorder 2020-11-12 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. RCV001828056 SCV002093518 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-10-16 no assertion criteria provided clinical testing

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