ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002771376 SCV003032374 pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2957*) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). This variant is present in population databases (rs752035788, gnomAD 0.006%). 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: 1990535). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002771376 SCV004123703 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing SZT2: PVS1, PM2
Genome-Nilou Lab RCV003458154 SCV004178053 pathogenic Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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