ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His) (rs144218947)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500684 SCV000597381 uncertain significance not specified 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV000822279 SCV000963074 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2623 of the SZT2 protein (p.Arg2623His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs144218947, ExAC 0.01%). This variant has not been reported in the literature in individuals with SZT2-related disease. ClinVar contains an entry for this variant (Variation ID: 436933). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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