ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8459C>T (p.Thr2820Ile)

gnomAD frequency: 0.00002  dbSNP: rs776178283
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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 RCV000624109 SCV000742109 uncertain significance Inborn genetic diseases 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV001217388 SCV001389224 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2763 of the SZT2 protein (p.Thr2763Ile). This variant is present in population databases (rs776178283, gnomAD 0.09%). 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: 521494). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SZT2 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 RCV001217388 SCV001992264 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28556953, 23932106, 28199315, 24324832, 27248490)
Genome-Nilou Lab RCV003457730 SCV004178021 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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