ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6082T>G (p.Phe2028Val)

dbSNP: rs2097556386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068105 SCV001233195 uncertain significance Duchenne muscular dystrophy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 2028 of the DMD protein (p.Phe2028Val). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and valine. 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 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.
Revvity Omics, Revvity RCV003145335 SCV003834716 uncertain significance not provided 2019-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836110 SCV002091043 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-02-28 no assertion criteria provided clinical testing

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