ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.9580A>C (p.Ile3194Leu) (rs181517869)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764875 SCV000896031 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000229457 SCV000288076 uncertain significance Duchenne muscular dystrophy 2016-01-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 3194 of the DMD protein (p.Ile3194Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is present in population databases (rs181517869, ExAC <0.01%) but has not been reported in the literature in individuals with a DMD-related disease. 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 C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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