ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)

gnomAD frequency: 0.00119  dbSNP: rs143935839
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500168 SCV000597378 uncertain significance not specified 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000864618 SCV001005441 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000864618 SCV001804311 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341188 SCV002640192 uncertain significance Inborn genetic diseases 2019-02-23 criteria provided, single submitter clinical testing The p.R1519H variant (also known as c.4556G>A), located in coding exon 31 of the SZT2 gene, results from a G to A substitution at nucleotide position 4556. The arginine at codon 1519 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other 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.
New York Genome Center RCV001255057 SCV001431148 uncertain significance Seizure 2020-01-24 no assertion criteria provided clinical testing

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