ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)

dbSNP: rs121908214
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Total submissions: 4
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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
UniProtKB/Swiss-Prot RCV000009012 SCV000090867 not provided Migraine, familial hemiplegic, 1 no assertion provided not provided
GeneReviews RCV001533163 SCV001748982 not provided Familial hemiplegic migraine no assertion provided literature only Hemiplegic attacks plus ataxia

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