ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.116+5G>C

dbSNP: rs1281394588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547784 SCV000651978 uncertain significance Febrile seizures, familial, 11 2017-03-21 criteria provided, single submitter clinical testing In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CPA6-related disease. This sequence change falls in intron 1 of the CPA6 gene. It does not directly change the encoded amino acid sequence of the CPA6 protein, but it affects a nucleotide within the consensus splice site of the intron.

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