ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2381C>T (p.Ser794Leu)

dbSNP: rs267601778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316219 SCV000851081 uncertain significance Inborn genetic diseases 2016-06-16 criteria provided, single submitter clinical testing The p.S794L variant (also known as c.2381C>T), located in coding exon 15 of the KCNQ3 gene, results from a C to T substitution at nucleotide position 2381. The serine at codon 794 is replaced by leucine, an amino acid with dissimilar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001368930 SCV001565352 uncertain significance Benign neonatal seizures 2022-09-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 77175). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 794 of the KCNQ3 protein (p.Ser794Leu). This variant is present in population databases (rs267601778, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCNQ3 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.

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