ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1223T>C (p.Leu408Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785875 SCV005400976 uncertain significance Familial temporal lobe epilepsy 5 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.1223T>C(p.Leu408Ser) variant in CPA6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Leu at position 408 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Leu408Ser in CPA6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging, and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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