Submissions for variant NM_004006.3(DMD):c.3951G>A (p.Glu1317=)

gnomAD frequency: 0.00022  dbSNP: rs199643655

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084784	SCV000288053	benign	Duchenne muscular dystrophy	2024-01-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725448	SCV000337017	uncertain significance	not provided	2015-11-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284261	SCV000482256	uncertain significance	Dilated cardiomyopathy 3B	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000725448	SCV000520784	likely benign	not provided	2018-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621050	SCV000737065	likely benign	Cardiovascular phenotype	2016-03-02	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000339725	SCV001157267	likely benign	not specified	2019-01-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001828111	SCV002085386	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2018-01-18	no assertion criteria provided	clinical testing