ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)

dbSNP: rs552275776
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214891 SCV000270126 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Pro857Ser in exon 20 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (92/10124) of South Asian chrom osomes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs552275776).
Invitae RCV000465012 SCV000560872 benign Duchenne muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000214891 SCV000707111 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000214891 SCV000714969 benign not specified 2017-08-07 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.
Ambry Genetics RCV000618914 SCV000736468 benign Cardiovascular phenotype 2017-11-03 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.
PreventionGenetics, part of Exact Sciences RCV004530292 SCV004748193 benign DMD-related disorder 2019-07-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001828059 SCV002089709 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-03 no assertion criteria provided clinical testing

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