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
Invitae	RCV000463489	SCV000553340	uncertain significance	not provided	2019-10-12	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%). This variant has not been reported in the literature in individuals with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 411925). 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: "Possibly 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.
Fulgent Genetics,Fulgent Genetics	RCV000763916	SCV000894860	uncertain significance	Early infantile epileptic encephalopathy 18	2018-10-31	criteria provided, single submitter	clinical testing

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