ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.931C>T (p.Arg311Ter)

gnomAD frequency: 0.00023  dbSNP: rs139145929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500175 SCV000594211 likely pathogenic Epilepsy 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV000705406 SCV000834402 uncertain significance Febrile seizures, familial, 11 2023-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg311*) in the CPA6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CPA6 cause disease. This variant is present in population databases (rs139145929, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CPA6-related conditions. ClinVar contains an entry for this variant (Variation ID: 434821). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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