Submissions for variant NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)

gnomAD frequency: 0.00026  dbSNP: rs201341211

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000221267	SCV000202455	likely benign	not specified	2017-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000488218	SCV000235824	benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221267	SCV000270122	likely benign	not specified	2016-02-18	criteria provided, single submitter	clinical testing	p.Thr418Ser in exon 11 of DMD: This variant is not expected to have clinical sig nificance because it was seen in 20/47913 European chromosomes, including 5 hem izygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201341211) and due to a lack of conservation across species, includ ing mammals. Of note, >5 mammals (Ferret, Panda, Pacific Walrus, Weddell seal, M anatee, Armadillo, Platypus) have serine (Ser) at this position despite high nea rby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088321	SCV000560797	benign	Duchenne muscular dystrophy	2025-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488218	SCV000575628	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	DMD: BP4, BS1
Ambry Genetics	RCV002408680	SCV002680988	benign	Cardiovascular phenotype	2018-02-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000488218	SCV004564875	likely benign	not provided	2023-06-15	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000488218	SCV001798373	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000488218	SCV001972437	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826820	SCV002090391	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-06-24	no assertion criteria provided	clinical testing