Submissions for variant NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)

gnomAD frequency: 0.02084  dbSNP: rs16990264

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080638	SCV000112540	benign	not specified	2016-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001719837	SCV000168184	benign	not provided	2018-11-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27896284, 23299917, 12354438, 27884173)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080638	SCV000268962	benign	not specified	2015-03-20	criteria provided, single submitter	clinical testing	p.Asn1672Lys in exon 35 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 7.2% (760/10546) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs16990261).
PreventionGenetics, part of Exact Sciences	RCV000080638	SCV000309936	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242327	SCV000318385	benign	Cardiovascular phenotype	2016-03-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000330350	SCV000482248	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000757159	SCV000560874	benign	Duchenne muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000330350	SCV000803568	likely benign	Dilated cardiomyopathy 3B	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Likely Benign, for Cardiomyopathy, dilated, 3B, in X-linked Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2-Supporting => BS2 downgraded in strength to supporting.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719837	SCV000885288	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000080638	SCV001879911	benign	not specified	2021-04-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080638	SCV002050948	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498416	SCV002809027	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2021-11-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001831855	SCV002093548	benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-04-21	no assertion criteria provided	clinical testing