Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2_SupportingPP5_Moderate
The NM_001127222(CACNA1A):c.2806C>T(p.Gln936Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. 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 (★). Variant results in nonsense mediated mRNA decay.
Verdict is Pathogenic. Variant got 11 ACMG points.
GnomAD3 genomesCov.: 33
Submissions by phenotype
Inborn genetic diseases
|Pathogenic, criteria provided, single submitter||clinical testing||Ambry Genetics||Dec 21, 2015||- -|
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