Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PVS1_ModeratePM2_SupportingPP3_StrongPP5_Moderate
The NM_001127222(CACNA1A):c.5941-2A>G variant causes a splice acceptor change. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. 2/2 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely pathogenic (★).
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 7.54e-7AC: 1AN: 1325966Hom.: 0 AF XY: 0.00000155AC XY: 1AN XY: 647196
Submissions by phenotype
Inborn genetic diseases
|Likely pathogenic, criteria provided, single submitter||clinical testing||Ambry Genetics||Sep 29, 2017||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at