ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser)

gnomAD frequency: 0.00031  dbSNP: rs144139818
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795603 SCV000935071 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1598 of the SZT2 protein (p.Pro1598Ser). This variant is present in population databases (rs144139818, gnomAD 0.1%). 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: 642190). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SZT2 protein function. 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.
New York Genome Center RCV001263329 SCV001441370 uncertain significance Seizure 2020-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000795603 SCV001786085 uncertain significance not provided 2023-05-12 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
Fulgent Genetics, Fulgent Genetics RCV002507371 SCV002798308 uncertain significance Developmental and epileptic encephalopathy, 18 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537005 SCV003733899 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.4792C>T (p.P1598S) alteration is located in exon 33 (coding exon 33) of the SZT2 gene. This alteration results from a C to T substitution at nucleotide position 4792, causing the proline (P) at amino acid position 1598 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002507371 SCV004180159 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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