ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) (rs201767217)

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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 RCV000763917 SCV000894861 uncertain significance Early infantile epileptic encephalopathy 18 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000461838 SCV000553360 uncertain significance not specified 2016-04-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 1114 of the SZT2 protein (p.Gly1114Trp). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and tryptophan. This variant is present in population databases (rs201767217, ExAC 0.02%) 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It is not expected to cause 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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