ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2798C>T (p.Ser933Phe)

dbSNP: rs2102553017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000558 SCV002268896 uncertain significance not provided 2021-08-07 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 933 of the CACNA1E protein (p.Ser933Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CACNA1E-related conditions. 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 not expected to disrupt CACNA1E protein function. 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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