ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His) (rs150591561)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658509 SCV000780277 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720270 SCV000851147 uncertain significance Seizures 2018-05-17 criteria provided, single submitter clinical testing The p.R2695H variant (also known as c.8084G>A), located in coding exon 58 of the SZT2 gene, results from a G to A substitution at nucleotide position 8084. The arginine at codon 2695 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV000658509 SCV001003639 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing

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