ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5270T>C (p.Ile1757Thr) (rs201516290)

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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 RCV000620543 SCV000735347 uncertain significance Cardiovascular phenotype 2016-03-25 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
Invitae RCV001244304 SCV001417514 uncertain significance Duchenne muscular dystrophy 2019-05-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1757 of the DMD protein (p.Ile1757Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs201516290, ExAC 0.002%). This variant has not been reported in the literature in individuals with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 518509). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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