ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)

gnomAD frequency: 0.00003  dbSNP: rs1266642291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316818 SCV000850573 uncertain significance Inborn genetic diseases 2017-11-29 criteria provided, single submitter clinical testing The p.E1979K variant (also known as c.5935G>A), located in coding exon 40 of the CACNA1A gene, results from a G to A substitution at nucleotide position 5935. The glutamic acid at codon 1979 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001248032 SCV001421491 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-10-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1979 of the CACNA1A protein (p.Glu1979Lys). ClinVar contains an entry for this variant (Variation ID: 589592). 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) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1A protein function.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251917 SCV001427663 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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