ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2570C>T (p.Pro857Leu)

gnomAD frequency: 0.00001  dbSNP: rs1302325394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346300 SCV001540484 uncertain significance Duchenne muscular dystrophy 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 857 of the DMD protein (p.Pro857Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001825928 SCV002089708 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-09-26 no assertion criteria provided clinical testing

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