ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)

gnomAD frequency: 0.00003  dbSNP: rs1336146310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316118 SCV000847682 uncertain significance Inborn genetic diseases 2016-08-29 criteria provided, single submitter clinical testing The p.P2223L variant (also known as c.6668C>T), located in coding exon 46 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6668. The proline at codon 2223 is replaced by leucine, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5075 samples (10150 alleles) with coverage at this position. This amino acid position is poorly 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 variant remains unclear.
Invitae RCV001343264 SCV001537233 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-21 criteria provided, single submitter clinical testing

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