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

dbSNP: rs368803197

Total submissions: 9

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. broadinstitute.org; 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