Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV001253380 | SCV001429059 | uncertain significance | Developmental and epileptic encephalopathy, 42 | 2018-09-06 | criteria provided, single submitter | clinical testing | |
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 | |
Ce |
RCV000481834 | SCV003918081 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CACNA1A: PP2, BP5 |