Submissions for variant NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)

gnomAD frequency: 0.01079  dbSNP: rs34155804

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080438	SCV000112340	benign	not specified	2015-12-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000080438	SCV000168165	benign	not specified	2014-03-24	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080438	SCV000268944	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Thr409Ser in exon 11 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 3.7% (140/3833) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs34155804).
Invitae	RCV001082086	SCV000288040	benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080438	SCV000309920	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392921	SCV000482278	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755250	SCV000603338	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621873	SCV000736384	benign	Cardiovascular phenotype	2015-11-12	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853048	SCV000995805	benign	Hypertrophic cardiomyopathy	2019-06-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000755250	SCV001143741	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080438	SCV003929346	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826725	SCV002090394	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-04-20	no assertion criteria provided	clinical testing