ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3443G>A (p.Arg1148His)

gnomAD frequency: 0.00012  dbSNP: rs142611359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811934 SCV000952226 uncertain significance not provided 2022-07-10 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 1091 of the SZT2 protein (p.Arg1091His). This variant is present in population databases (rs142611359, gnomAD 0.02%). 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: 655695). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; 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.
GeneDx RCV000811934 SCV001770396 uncertain significance not provided 2020-08-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000811934 SCV004013249 uncertain significance not provided 2023-05-31 criteria provided, single submitter clinical testing PM2, BP4
Genome-Nilou Lab RCV003457821 SCV004177371 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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