ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met)

gnomAD frequency: 0.00004  dbSNP: rs1174812322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335731 SCV001528959 uncertain significance Developmental and epileptic encephalopathy, 18 2018-01-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001344093 SCV001538129 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2715 of the SZT2 protein (p.Thr2715Met). This variant is present in population databases (no rsID available, 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: 1033343). 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.
Genome-Nilou Lab RCV001335731 SCV004178012 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968053 SCV005513557 uncertain significance Inborn genetic diseases 2024-10-19 criteria provided, single submitter clinical testing The c.8144C>T (p.T2715M) alteration is located in exon 58 (coding exon 58) of the SZT2 gene. This alteration results from a C to T substitution at nucleotide position 8144, causing the threonine (T) at amino acid position 2715 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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