ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)

gnomAD frequency: 0.00001  dbSNP: rs200850308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518167 SCV000612524 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Invitae RCV000810178 SCV000950370 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000518167 SCV001763876 likely benign not provided 2019-08-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31780880)
Ambry Genetics RCV002323878 SCV002607742 uncertain significance Inborn genetic diseases 2017-10-27 criteria provided, single submitter clinical testing The p.R1057H variant (also known as c.3170G>A), located in coding exon 20 of the CACNA1A gene, results from a G to A substitution at nucleotide position 3170. The arginine at codon 1057 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well 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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