ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)

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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 RCV002606804 SCV003504093 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1149 of the CACNA1E protein (p.Ile1149Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 2186654). 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 with a negative predictive value of 95%. 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.
Ambry Genetics RCV002623327 SCV003646862 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.3445A>G (p.I1149V) alteration is located in exon 23 (coding exon 23) of the CACNA1E gene. This alteration results from a A to G substitution at nucleotide position 3445, causing the isoleucine (I) at amino acid position 1149 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003458900 SCV004179638 uncertain significance Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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