Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2_SupportingPM5PP2PP3_ModeratePP5
The NM_001127222(CACNA1A):c.2134G>T(p.Ala712Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A712T) has been classified as Likely pathogenic.
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
GnomAD3 genomesCov.: 29
Submissions by phenotype
Developmental and epileptic encephalopathy, 42
|Pathogenic, no assertion criteria provided||clinical testing||Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology||Oct 13, 2020||We consider the variant NM_001127221.2:c.2137G>T as disease-causing; it results in an amino acid substitution. -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at