ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8201G>A (p.Arg2734Gln)

gnomAD frequency: 0.00004  dbSNP: rs370164213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317977 SCV001508660 uncertain significance not provided 2022-07-26 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 2677 of the SZT2 protein (p.Arg2677Gln). This variant is present in population databases (rs370164213, 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: 241039). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV001317977 SCV001771918 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing 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
Genome-Nilou Lab RCV003457660 SCV004178003 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001317977 SCV004227824 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing PM2

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