ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)

gnomAD frequency: 0.00034  dbSNP: rs138145424
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724731 SCV000227672 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223116 SCV000271655 uncertain significance not specified 2015-04-28 criteria provided, single submitter clinical testing The p.Thr847Ala variant in DMD has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 4/8508 African chromosomes, inclu ding one male, by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs138145424). Computational prediction tools and conservation an alysis suggest that this variant may not impact the protein, though this informa tion is not predictive enough to rule out pathogenicity. In summary, the clinica l significance of the p.Thr847Ala variant is uncertain.
GeneDx RCV000724731 SCV000619814 benign not provided 2020-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620846 SCV000737010 likely benign Cardiovascular phenotype 2020-03-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000685504 SCV000812987 benign Duchenne muscular dystrophy 2023-12-12 criteria provided, single submitter clinical testing

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