ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5216C>A (p.Ala1739Glu) (rs200740165)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244774 SCV000319616 uncertain significance Cardiovascular phenotype 2015-05-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731031 SCV000858801 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV001244498 SCV001417724 uncertain significance Duchenne muscular dystrophy 2019-05-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 1739 of the DMD protein (p.Ala1739Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs200740165, ExAC 0.05%). This variant has not been reported in the literature in individuals with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 264005). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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