ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) (rs72654981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526086 SCV000651979 uncertain significance Febrile seizures, familial, 11 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 424 of the CPA6 protein (p.Ala424Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs72654981, ExAC 0.05%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with a CPA6-related disease. An experimental study has shown that this missense change disrupts CPA6 protein activity in vitro (PMID: 23105115). 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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