Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390440 | SCV001592178 | pathogenic | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2020-06-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect CACNA1A protein function (PMID: 10024348, 9488686, 12235360). This variant has been observed in individual(s) with familial hemiplegic migraine (PMID: 8898206). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8490). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with leucine at codon 1810 of the CACNA1A protein (p.Ile1810Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. |
OMIM | RCV000009012 | SCV000029227 | pathogenic | Migraine, familial hemiplegic, 1 | 1996-11-01 | no assertion criteria provided | literature only | |
Uni |
RCV000009012 | SCV000090867 | not provided | Migraine, familial hemiplegic, 1 | no assertion provided | not provided | ||
Gene |
RCV001533163 | SCV001748982 | not provided | Familial hemiplegic migraine | no assertion provided | literature only | Hemiplegic attacks plus ataxia |