ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) (rs766177388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000280874 SCV000474742 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000649886 SCV000771722 uncertain significance Febrile seizures, familial, 11 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 341 of the CPA6 protein (p.Ile341Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs766177388, ExAC 0.02%). This variant has not been reported in the literature in individuals with CPA6-related disease. ClinVar contains an entry for this variant (Variation ID: 363604). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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