ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3755A>C (p.Gln1252Pro)

gnomAD frequency: 0.00003  dbSNP: rs750743832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795900 SCV000935381 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1195 of the SZT2 protein (p.Gln1195Pro). This variant is present in population databases (no rsID available, gnomAD 0.1%). 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: 642433). 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.
Ambry Genetics RCV002458431 SCV002613613 uncertain significance Inborn genetic diseases 2018-07-11 criteria provided, single submitter clinical testing The p.Q1195P variant (also known as c.3584A>C), located in coding exon 25 of the SZT2 gene, results from an A to C substitution at nucleotide position 3584. The glutamine at codon 1195 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003457802 SCV004177561 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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