ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4457A>C (p.Glu1486Ala)

dbSNP: rs1060503546
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348274 SCV001542570 uncertain significance not provided 2020-03-06 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SZT2-related disease. This sequence change replaces glutamic acid with alanine at codon 1429 of the SZT2 protein (p.Glu1429Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine.

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