ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His)

gnomAD frequency: 0.00002  dbSNP: rs1417890059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056032 SCV001220451 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2170 of the CACNA1A protein (p.Arg2170His). This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 851603). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV003425900 SCV004137980 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing CACNA1A: PP2, PP3

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