ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met)

dbSNP: rs1666159827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262159 SCV001439932 uncertain significance Developmental and epileptic encephalopathy, 69 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as de novo.
Labcorp Genetics (formerly Invitae), Labcorp RCV005094250 SCV005731633 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 167 of the CACNA1E protein (p.Val167Met). 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: 982596). 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%. 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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