ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.127A>G (p.Ile43Val)

gnomAD frequency: 0.00003  dbSNP: rs766547893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700639 SCV000829402 uncertain significance Febrile seizures, familial, 11 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 43 of the CPA6 protein (p.Ile43Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs766547893, ExAC 0.006%). This variant has not been reported in the literature in individuals with CPA6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000700639 SCV002026372 uncertain significance Febrile seizures, familial, 11 2021-11-05 criteria provided, single submitter clinical testing _x000D_This variant was identified as compound heterozygous with NM_020361.5:c.127A>G. Criteria applied: PM3, PM2_SUP
New York Genome Center RCV002227489 SCV002506953 uncertain significance Familial temporal lobe epilepsy 5; Febrile seizures, familial, 11 2021-05-14 criteria provided, single submitter clinical testing

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