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

gnomAD frequency: 0.00124  dbSNP: rs145515413

Total submissions: 9

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460598	SCV000560814	benign	Duchenne muscular dystrophy	2025-01-23	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
Natera, Inc.	RCV001828056	SCV002093518	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-10-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530269	SCV004737476	likely benign	DMD-related disorder	2020-11-12	no assertion criteria provided	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).