ClinVar Genomic variation as it relates to human health
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
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 | |||
PIEZO1 | - | - |
GRCh38 GRCh37 |
1103 | 1779 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Dec 27, 2023 | RCV003120152.4 | |
Uncertain significance (1) |
|
Jun 5, 2023 | RCV003333240.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024