ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4324A>C (p.Ile1442Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002649304 SCV002977259 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1385 of the SZT2 protein (p.Ile1385Leu).
Ambry Genetics RCV003167533 SCV003910322 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.4153A>C (p.I1385L) alteration is located in exon 29 (coding exon 29) of the SZT2 gene. This alteration results from a A to C substitution at nucleotide position 4153, causing the isoleucine (I) at amino acid position 1385 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003458152 SCV004178840 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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