ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys)

dbSNP: rs1554627218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513519 SCV000609321 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV001857856 SCV002191245 uncertain significance Benign neonatal seizures 2023-06-25 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. 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 expected to disrupt KCNQ3 protein function. ClinVar contains an entry for this variant (Variation ID: 444762). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 319 of the KCNQ3 protein (p.Tyr319Cys).
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV003403201 SCV004102642 likely pathogenic Seizure 2023-03-24 criteria provided, single submitter clinical testing

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