ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His)

gnomAD frequency: 0.00006  dbSNP: rs374896394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339467 SCV001533212 uncertain significance not provided 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2448 of the SZT2 protein (p.Arg2448His). This variant is present in population databases (rs374896394, gnomAD 0.02%). 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: 1036451). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001339467 SCV001772504 uncertain significance not provided 2023-01-09 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
New York Genome Center RCV002227519 SCV002506887 uncertain significance Developmental and epileptic encephalopathy, 18 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002227519 SCV004181307 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035899 SCV004963655 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.7343G>A (p.R2448H) alteration is located in exon 53 (coding exon 53) of the SZT2 gene. This alteration results from a G to A substitution at nucleotide position 7343, causing the arginine (R) at amino acid position 2448 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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