ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg)

gnomAD frequency: 0.00001  dbSNP: rs746195332
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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 RCV002317529 SCV000850987 uncertain significance Inborn genetic diseases 2016-04-27 criteria provided, single submitter clinical testing The p.S1144R variant (also known as c.3432C>G), located in coding exon 20 of the CACNA1A gene, results from a C to G substitution at nucleotide position 3432. The serine at codon 1144 is replaced by arginine, an amino acid with dissimilar 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 6045 samples (12090 alleles) with coverage at this position. This amino acid position is highly 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.
GeneDx RCV002510969 SCV002820344 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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