Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2_SupportingPP2
The NM_001127222(CACNA1A):c.6203G>C(p.Arg2068Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152220 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R2068Q) has been classified as Likely benign.
Verdict is Uncertain_significance. Variant got 2 ACMG points.
GnomAD3 genomes AF: 0.00000657AC: 1AN: 152220Hom.: 0Cov.: 34 GnomAD4 exome AF: 0.00000137AC: 2AN: 1461494Hom.: 0 AF XY: 0.00AC XY: 0AN XY: 727066
ClinVarNot reported in
Find out SpliceAI and Pangolin per-transcript scores at