Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM1PM2_SupportingPM5PP2PP3_StrongPP5_Moderate
The NM_001127222.2(CACNA1A):c.4043G>C(p.Arg1348Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. 12/20 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1348Q) has been classified as Likely pathogenic.
Verdict is Pathogenic. Variant got 12 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
|Likely pathogenic, criteria provided, single submitter||clinical testing||Genetic Services Laboratory, University of Chicago||Sep 26, 2017||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.