ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1851G>A (p.Met617Ile)

dbSNP: rs1238073206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044639 SCV001208445 uncertain significance Duchenne muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 617 of the DMD protein (p.Met617Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002489587 SCV002791411 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836082 SCV002092224 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-10-16 no assertion criteria provided clinical testing

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