Submissions for variant NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr)

gnomAD frequency: 0.00045  dbSNP: rs754779853

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000484121	SCV000573120	uncertain significance	not provided	2017-02-15	criteria provided, single submitter	clinical testing	The H2925Y variant in the SZT2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 31/8654 (0.36%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). The H2925Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H2925Y as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV000763922	SCV000894866	uncertain significance	Developmental and epileptic encephalopathy, 18	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000484121	SCV002244414	likely benign	not provided	2023-12-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925413	SCV004741440	likely benign	SZT2-related condition	2020-05-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).