ClinVar Genomic variation as it relates to human health
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)
Germline
Classification
(2)
Pathogenic
criteria provided, single submitter
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 | |||
CACNA1S | No evidence available | No evidence available |
GRCh38 GRCh37 |
2658 | 2686 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 15, 2022 | RCV003120264.2 | |
Pathogenic (1) |
|
Mar 10, 2023 | RCV003222483.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024