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

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.