ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) (rs754779853)

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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 RCV000763922 SCV000894866 uncertain significance Early infantile epileptic encephalopathy 18 2018-10-31 criteria provided, single submitter clinical testing
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.

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