ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys)

dbSNP: rs1459374430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813464 SCV000953824 pathogenic Benign neonatal seizures 2021-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with clinical features of autosomal dominant KCNQ3-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 656938). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 364 of the KCNQ3 protein (p.Arg364Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
Department of Developmental Neurology, Medical University of Gdańsk RCV003389832 SCV004100901 not provided Seizures, benign familial neonatal, 2 no assertion provided phenotyping only

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