ClinVar Genomic variation as it relates to human health
NM_021096.4(CACNA1I):c.3392G>T (p.Arg1131Leu)
Germline
Classification
(3)
Uncertain significance
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CACNA1I | - | - |
GRCh38 GRCh37 |
276 | 296 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 1, 2023 | RCV003457211.7 | |
Uncertain significance (1) |
|
Apr 13, 2023 | RCV004310928.1 | |
Uncertain significance (1) |
|
May 2, 2024 | RCV004587481.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024