ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) (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 2019-08-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 186 of the CPA6 protein (p.Lys186Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs199576384, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). ClinVar contains an entry for this variant (Variation ID: 433109). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 29358611). 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 Rolandic epilepsy 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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