ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)

gnomAD frequency: 0.00001  dbSNP: rs760816963
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481834 SCV000572807 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing Reported previously in an individual with mild dysarthria, prominent cerebellar oculomotor dysfunction, limb and truncal ataxia with gait instability, but no additional signs of SCA6, and in his similarly affected father, (Balck et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 28455667)
Invitae RCV000703860 SCV000832784 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318582 SCV000851339 uncertain significance Inborn genetic diseases 2018-08-29 criteria provided, single submitter clinical testing The p.R803S variant (also known as c.2407C>A), located in coding exon 19 of the CACNA1A gene, results from a C to A substitution at nucleotide position 2407. The arginine at codon 803 is replaced by serine, an amino acid with dissimilar properties. In one study, this alteration was detected in a father and his son; both of whom had spinocerebellar ataxia symptoms (Balck A et al. J. Neurol., 2017 Jul;264:1520-1522). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253380 SCV001429059 uncertain significance Developmental and epileptic encephalopathy, 42 2018-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489171 SCV002796329 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000481834 SCV003918081 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing CACNA1A: PP2, BP5

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