ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2014A>T (p.Thr672Ser)

gnomAD frequency: 0.00009  dbSNP: rs190973132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318298 SCV000851624 uncertain significance Inborn genetic diseases 2017-04-25 criteria provided, single submitter clinical testing The p.T672S variant (also known as c.2014A>T), located in coding exon 14 of the SZT2 gene, results from an A to T substitution at nucleotide position 2014. The threonine at codon 672 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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 RCV000820890 SCV000961624 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 672 of the SZT2 protein (p.Thr672Ser). This variant is present in population databases (rs190973132, 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: 590117). 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.
GeneDx RCV000820890 SCV001987105 uncertain significance not provided 2019-03-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Genome-Nilou Lab RCV003457789 SCV004179652 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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