Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826158 | SCV000967694 | likely pathogenic | Episodic ataxia type 2 | 2018-03-01 | criteria provided, single submitter | clinical testing | The c.6321+1G>A variant in CACNA1A has not been previously reported in individua ls with episodic ataxia type 2 or in large population studies. This variant occu rs in the invariant region (+/- 1,2) of the splice consensus sequence and is pre dicted to cause altered splicing leading to an abnormal or absent protein. Heter ozygous loss of function of the CACNA1A gene is an established disease mechanism in individuals with episodic ataxia type 2. In summary, although additional stu dies are required to fully establish its clinical significance, the c.6321+1G>A variant is likely pathogenic. ACMG/AMP Criteria applied (Richards 2015): PVS1_St rong; PM2; PP3. |