ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.295A>G (p.Ile99Val) (rs149428656)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723910 SCV000202461 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515266 SCV000611471 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000212485 SCV000235860 likely benign not specified 2017-05-02 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.
Genetic Services Laboratory, University of Chicago RCV000212485 SCV000594380 uncertain significance not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV000630541 SCV000751504 uncertain significance Duchenne muscular dystrophy 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 99 of the DMD protein (p.Ile99Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs149428656, ExAC 0.04%). This variant has not been reported in the literature in individuals with DMD-related disease. ClinVar contains an entry for this variant (Variation ID: 166867). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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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