ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) (rs1381851622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062660 SCV001227475 uncertain significance Benign familial neonatal seizures 2019-04-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 334 of the KCNQ3 protein (p.Ala334Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433111). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656020 SCV000588296 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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