ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)

gnomAD frequency: 0.00001  dbSNP: rs778961643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437257 SCV000531238 likely benign not specified 2016-08-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001348257 SCV001542551 uncertain significance Duchenne muscular dystrophy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 3025 of the DMD protein (p.Lys3025Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs778961643, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 388851). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine 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.
Revvity Omics, Revvity RCV003144263 SCV003830027 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing

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