ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu)

gnomAD frequency: 0.00001  dbSNP: rs1219232478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895988 SCV002155435 uncertain significance not provided 2023-09-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1384428). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1E protein function. This variant has not been reported in the literature in individuals affected with CACNA1E-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 73 of the CACNA1E protein (p.Gly73Glu).
GeneDx RCV001895988 SCV002522106 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003458784 SCV004178578 uncertain significance Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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