Submissions for variant NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)

gnomAD frequency: 0.00119  dbSNP: rs142441725

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080665	SCV000112567	likely benign	not specified	2014-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001719838	SCV000235874	benign	not provided	2020-05-27	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080665	SCV000270129	likely benign	not specified	2016-03-22	criteria provided, single submitter	clinical testing	p.Glu1874Lys in exon 40 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (25/8489) of African chromosom es, including 6 hemizygotes, by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs142441725).
Illumina Laboratory Services, Illumina	RCV000304972	SCV000482242	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000533044	SCV000625927	benign	Duchenne muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622057	SCV000736716	likely benign	Cardiovascular phenotype	2018-10-03	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080665	SCV004038123	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719838	SCV004562117	likely benign	not provided	2023-09-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826756	SCV002093480	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-07-24	no assertion criteria provided	clinical testing