ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4054G>T (p.Gly1352Cys)

gnomAD frequency: 0.00003  dbSNP: rs147607647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814961 SCV000955400 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1295 of the SZT2 protein (p.Gly1295Cys). This variant is present in population databases (rs147607647, gnomAD 0.007%). 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: 658189). 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 C15"). 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.
GenomeConnect, ClinGen RCV001824890 SCV002074975 not provided Developmental and epileptic encephalopathy, 18 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-03-2018 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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