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 RCV000518167 SCV000612524 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing Observed in a patient with absence epilepsy; however, additional variants in other genes were also identified and this variant in CACNA1A was not found in the patient's affected sibling (PMID: 31780880); In silico analysis supports that this missense variant does not alter protein structure/function; 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, 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.

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