ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu)

dbSNP: rs1445829303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090510 SCV001246106 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090510 SCV003337759 likely pathogenic not provided 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 698 of the CACNA1E protein (p.Phe698Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1E-related conditions. ClinVar contains an entry for this variant (Variation ID: 870847). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1E protein function with a positive predictive value of 80%. This variant disrupts the p.Phe698 amino acid residue in CACNA1E. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 30343943). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab RCV003458619 SCV004179594 likely pathogenic Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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