ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) (rs118192251)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462450 SCV000543210 likely pathogenic Benign familial neonatal seizures 2016-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 330 of the KCNQ3 protein (p.Arg330Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (rs118192251, ExAC no frequency). This variant has been reported to segregate with disease in two families affected with benign familial neonatal convulsions (PMID: 18249525, 23146207). ClinVar contains an entry for this variant (Variation ID: 21417). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change that has been reported in affected individuals. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000020602 SCV000743523 pathogenic Benign familial neonatal seizures 2 2014-10-08 criteria provided, single submitter clinical testing
GeneReviews RCV000020602 SCV000041091 pathogenic Benign familial neonatal seizures 2 2010-04-27 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000020602 SCV000121585 pathogenic Benign familial neonatal seizures 2 2013-05-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000020602 SCV000734592 pathogenic Benign familial neonatal seizures 2 no assertion criteria provided clinical testing

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