ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1118C>A (p.Thr373Lys)

gnomAD frequency: 0.00001  dbSNP: rs564259689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221614 SCV001393670 uncertain significance Febrile seizures, familial, 11 2022-02-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 950004). This variant has not been reported in the literature in individuals affected with CPA6-related conditions. This variant is present in population databases (rs564259689, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 373 of the CPA6 protein (p.Thr373Lys). 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. 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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