ClinVar Miner

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

gnomAD frequency: 0.00054  dbSNP: rs147904018
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Total submissions: 8
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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
PreventionGenetics, part of Exact Sciences RCV004539710 SCV004784446 likely benign DMD-related disorder 2019-09-13 criteria provided, single submitter 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).
Natera, Inc. RCV001835711 SCV002093525 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-21 no assertion criteria provided clinical testing

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