ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1309G>C (p.Ala437Pro) (rs748964279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540670 SCV000625836 uncertain significance Duchenne muscular dystrophy 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 437 of the DMD protein (p.Ala437Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs748964279, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on DMD function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000619591 SCV000736162 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Insufficient evidence

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