ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3823C>G (p.Pro1275Ala)

gnomAD frequency: 0.00005  dbSNP: rs200612162
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813310 SCV000953668 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1218 of the SZT2 protein (p.Pro1218Ala). This variant is present in population databases (rs200612162, gnomAD 0.2%). 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: 656800). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
CeGaT Center for Human Genetics Tuebingen RCV000813310 SCV001147248 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000813310 SCV001982585 uncertain significance not provided 2021-09-28 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
Mayo Clinic Laboratories, Mayo Clinic RCV000813310 SCV002542064 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453845 SCV002613917 uncertain significance Inborn genetic diseases 2018-02-28 criteria provided, single submitter clinical testing The p.P1218A variant (also known as c.3652C>G), located in coding exon 26 of the SZT2 gene, results from a C to G substitution at nucleotide position 3652. The proline at codon 1218 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is well 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.
Genome-Nilou Lab RCV003457824 SCV004178595 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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