ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) (rs143880787)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805074 SCV000945017 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 938 of the SZT2 protein (p.Ala938Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs143880787, ExAC 0.06%). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433087). 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: "Possibly 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196709 SCV001367340 uncertain significance Seizures; Cortical dysplasia; Hemimegalencephaly 2019-09-08 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BS2. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199346 SCV001370432 uncertain significance Seizures; Microcephaly; Absence seizures 2019-07-19 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4. This variant was detected in heterozygous state.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000805074 SCV001371259 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655970 SCV000588246 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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