ClinVar Genomic variation as it relates to human health
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His)
Germline
Classification
(4)
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 |
1162 | 1865 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2021 | RCV002683918.2 | |
Uncertain significance (2) |
|
Sep 14, 2023 | RCV003135270.9 | |
PIEZO1-related disorder
|
Uncertain significance (1) |
|
Jan 28, 2024 | RCV003946403.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024