Submissions for variant NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)

gnomAD frequency: 0.00126  dbSNP: rs72466590

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080750	SCV000112652	benign	not specified	2014-02-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001093402	SCV000235853	likely benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17259292, 23757202, 25447171, 19937601)
Ambry Genetics	RCV000246044	SCV000318569	likely benign	Cardiovascular phenotype	2018-10-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000990621	SCV000560838	likely benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001093402	SCV000603350	benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000080750	SCV000613132	benign	not specified	2017-05-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080750	SCV000711681	uncertain significance	not specified	2016-05-18	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Ala2395Thr va riant in DMD has been reported in 1 child with unexplained sudden death (Campuza no 2014) and 1 mother of a proband with Duchenne Muscular Dystrophy (Taylor 2007 ). It has also been identified in 0.1% (59/47984) of European chromosomes, inclu ding 22 hemizygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs72466590). Computational prediction tools and conservati on analysis suggest that the p.Ala2395Thr variant may not impact the protein, th ough this information is not predictive enough to rule out pathogenicity. In sum mary, while the clinical significance of the p.Ala2395Thr variant is uncertain, these data suggest that it is more likely to be benign.
Mendelics	RCV000990621	SCV001141637	benign	Duchenne muscular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001167295	SCV001329774	uncertain significance	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). 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000080750	SCV001433375	likely benign	not specified	2019-06-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080750	SCV002103724	likely benign	not specified	2022-02-03	criteria provided, single submitter	clinical testing
GenomeConnect, ClinGen	RCV000509543	SCV000607053	not provided	Becker muscular dystrophy; Dilated cardiomyopathy 3B		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001093402	SCV001798334	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001093402	SCV001932385	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001093402	SCV001967900	likely benign	not provided		no assertion criteria provided	clinical testing