ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) (rs746338306)

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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 RCV000720596 SCV000851475 uncertain significance Seizures 2017-01-25 criteria provided, single submitter clinical testing The p.A2055V variant (also known as c.6164C>T), located in coding exon 44 of the SZT2 gene, results from a C to T substitution at nucleotide position 6164. The alanine at codon 2055 is replaced by valine, an amino acid with similar properties. This amino acid position is not 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 variant remains unclear.
Invitae RCV001053926 SCV001218212 benign not provided 2020-07-07 criteria provided, single submitter clinical testing

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