ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr)

gnomAD frequency: 0.00001  dbSNP: rs371820430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543056 SCV000656749 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1089 of the CACNA1A protein (p.Ala1089Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 476251). 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. 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 RCV002448793 SCV002612473 uncertain significance Inborn genetic diseases 2018-05-15 criteria provided, single submitter clinical testing The p.A1089T variant (also known as c.3265G>A), located in coding exon 20 of the CACNA1A gene, results from a G to A substitution at nucleotide position 3265. The alanine at codon 1089 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.

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