ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5516G>A (p.Arg1839His) (rs760427137)

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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 RCV000623036 SCV000742108 uncertain significance Inborn genetic diseases 2017-03-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: NEGATIVE - No Relevant Alterations Detected (Step 2)
Invitae RCV000797578 SCV000937142 uncertain significance not provided 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1782 of the SZT2 protein (p.Arg1782His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs760427137, ExAC 0.01%) but has not been reported in the literature in individuals with an SZT2-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 variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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