ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) (rs140612122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279358 SCV000474745 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488402 SCV000575557 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000554145 SCV000651984 uncertain significance Febrile seizures, familial, 11 2018-04-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 266 of the CPA6 protein (p.Arg266Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs140612122, ExAC 0.03%) but has not been reported in the literature in individuals with a CPA6-related disease. ClinVar contains an entry for this variant (Variation ID: 363606). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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