ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) (rs754599484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763916 SCV000894860 uncertain significance Early infantile epileptic encephalopathy 18 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000463489 SCV000553340 uncertain significance not provided 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 785 of the SZT2 protein (p.Ser785Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs754599484, ExAC 0.04%) but has not been reported in the literature in individuals with a 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: "Possibly Damaging"; 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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