ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)

gnomAD frequency: 0.00006  dbSNP: rs199576384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703089 SCV000831971 uncertain significance Febrile seizures, familial, 11 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 186 of the CPA6 protein (p.Lys186Arg). This variant is present in population databases (rs199576384, gnomAD 0.01%). This missense change has been observed in individual(s) with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433109). 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV000656016 SCV000588292 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251958 SCV001427704 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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