ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) (rs373062274)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720283 SCV000851160 uncertain significance Seizures 2017-12-27 criteria provided, single submitter clinical testing The p.R2435W variant (also known as c.7303C>T), located in coding exon 52 of the SZT2 gene, results from a C to T substitution at nucleotide position 7303. The arginine at codon 2435 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been described in an individual with early onset epileptic encephalopathy who was compound heterozygous for another missense alteration (Tshuchida N et al. Clin. Genet., 2017 May; epub ahead of print). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. <br />
Invitae RCV000981751 SCV001129747 likely benign not provided 2020-10-10 criteria provided, single submitter clinical testing
OMIM RCV001292588 SCV001481161 pathogenic Early infantile epileptic encephalopathy 18 2021-02-19 no assertion criteria provided literature only

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