Submissions for variant NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)

gnomAD frequency: 0.00594  dbSNP: rs16998350

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080481	SCV000112383	benign	not specified	2014-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000080481	SCV000235831	benign	not specified	2014-09-23	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080481	SCV000268949	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Thr715Ser in exon 17 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (57/3833) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs16998350).
Invitae	RCV001082573	SCV000288048	benign	Duchenne muscular dystrophy	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244216	SCV000318388	benign	Cardiovascular phenotype	2015-12-02	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514008	SCV000603348	benign	not provided	2023-10-16	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514008	SCV000609906	benign	not provided	2017-05-04	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000514008	SCV000987525	likely benign	not provided		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168817	SCV001331445	benign	Dilated cardiomyopathy 3B	2017-04-27	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080481	SCV004038116	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000080481	SCV001929570	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000080481	SCV001964913	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826732	SCV002092184	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-04-20	no assertion criteria provided	clinical testing