ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly)

dbSNP: rs2102795834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002034771 SCV002262252 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects CACNA1E function (PMID: 17660294). 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. ClinVar contains an entry for this variant (Variation ID: 1344629). This missense change has been observed in individual(s) with developmental and epileptic encephalopathy (PMID: 30343943). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1720 of the CACNA1E protein (p.Ala1720Gly).
Yale Center for Mendelian Genomics, Yale University RCV001849630 SCV002106541 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-11-01 no assertion criteria provided literature only

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