Submissions for variant NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)

gnomAD frequency: 0.00054  dbSNP: rs147904018

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000396354	SCV000334980	likely benign	not specified	2015-09-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469017	SCV000560841	benign	Duchenne muscular dystrophy	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617311	SCV000736765	likely benign	Cardiovascular phenotype	2019-08-29	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.
Fulgent Genetics, Fulgent Genetics	RCV002492828	SCV002798889	benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2021-08-04	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002492828	SCV003919875	uncertain significance	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2021-03-30	criteria provided, single submitter	clinical testing	DMD NM_004006.2 exon 37 p.Arg1735Cys (c.5203C>T): This variant has not been reported in the literature and is present in 0.1% (36/18972) of African alleles in the Genome Aggregation Database, including 10 hemizygotes (http://gnomad.broadinstitute.org/variant/X-32381027-G-A). This variant is present in ClinVar (Variation ID:201749). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV003436975	SCV004164730	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	DMD: BP4, BS2
Natera, Inc.	RCV001835711	SCV002093525	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-06-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539710	SCV004784446	likely benign	DMD-related disorder	2019-09-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).