ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu) (rs753130543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720850 SCV000851734 uncertain significance Seizures 2017-05-26 criteria provided, single submitter clinical testing The p.K963E variant (also known as c.2887A>G), located in coding exon 20 of the SZT2 gene, results from an A to G substitution at nucleotide position 2887. The lysine at codon 963 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000869384 SCV001010806 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing

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