ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu)

gnomAD frequency: 0.00008  dbSNP: rs369627050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420519 SCV001622820 uncertain significance Developmental and epileptic encephalopathy, 18 2020-05-29 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003994289 SCV004812311 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-06-06 criteria provided, single submitter clinical testing This sequence change in SZT2 is predicted to replace valine with leucine at codon 1063, p.(Val1063Leu). Conservation of the valine residue is not assessable (100 vertebrates, UCSC), and it is not located in an annotated functional domain. There is a small physicochemical difference between valine and leucine. The highest population minor allele frequency in the population database gnomAD v3.1 is 0.2% (10/5,178 alleles) in the East Asian population. To our knowledge, this variant has not been previously reported in the relevant scientific literature and has been reported as a variant of uncertain significance (ClinVar ID: 1098584). Computational evidence is unavailable for the missense substitution. Based on the classification scheme RMH Modified ACMG Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: none.
PreventionGenetics, part of Exact Sciences RCV004749686 SCV005354452 likely benign SZT2-related disorder 2024-05-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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