ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4379G>C (p.Cys1460Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802729 SCV000942572 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 1403 of the SZT2 protein (p.Cys1403Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs372355354, ExAC 0.03%). This variant has not been reported in the literature in individuals with SZT2-related disease. 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: "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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