ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.4283A>G (p.Lys1428Arg) (rs371585389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621783 SCV000736879 uncertain significance Cardiovascular phenotype 2017-07-17 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001246744 SCV001420126 uncertain significance Duchenne muscular dystrophy 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1428 of the DMD protein (p.Lys1428Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs371585389, ExAC 0.01%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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