ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln)

gnomAD frequency: 0.00001  dbSNP: rs752495437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503874 SCV000597377 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000803382 SCV000943251 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 826 of the SZT2 protein (p.Arg826Gln). This variant is present in population databases (rs752495437, gnomAD 0.003%). 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: 436930). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002527295 SCV003546016 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.2477G>A (p.R826Q) alteration is located in exon 17 (coding exon 17) of the SZT2 gene. This alteration results from a G to A substitution at nucleotide position 2477, causing the arginine (R) at amino acid position 826 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003457713 SCV004179852 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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