ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu)

gnomAD frequency: 0.00035  dbSNP: rs149778841
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318037 SCV000849649 uncertain significance Inborn genetic diseases 2021-08-31 criteria provided, single submitter clinical testing The c.2787C>G (p.D929E) alteration is located in exon 19 (coding exon 19) of the SZT2 gene. This alteration results from a C to G substitution at nucleotide position 2787, causing the aspartic acid (D) at amino acid position 929 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV000805174 SCV000945121 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 929 of the SZT2 protein (p.Asp929Glu). This variant is present in population databases (rs149778841, gnomAD 0.07%). 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: 589094). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV000805174 SCV002044245 uncertain significance not provided 2023-05-07 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
Revvity Omics, Revvity RCV003141721 SCV003818889 uncertain significance Developmental and epileptic encephalopathy, 18 2019-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003141721 SCV004180712 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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