ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His)

dbSNP: rs775153972
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714621 SCV000845333 uncertain significance Developmental and epileptic encephalopathy, 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714622 SCV000845334 uncertain significance Developmental and epileptic encephalopathy, 18 2018-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316013 SCV000848925 uncertain significance Inborn genetic diseases 2017-02-03 criteria provided, single submitter clinical testing The p.R1391H variant (also known as c.4172G>A), located in coding exon 29 of the SZT2 gene, results from a G to A substitution at nucleotide position 4172. The arginine at codon 1391 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Invitae RCV001222205 SCV001394296 uncertain significance not provided 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1391 of the SZT2 protein (p.Arg1391His). This variant is present in population databases (rs775153972, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 587458). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000714622 SCV004178851 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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