ClinVar Genomic variation as it relates to human health
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
Germline
Classification
(2)
Likely pathogenic
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 |
1175 | 1896 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PIEZO1-related disorder
|
Likely pathogenic (1) |
|
Jun 27, 2023 | RCV003406082.4 |
Likely pathogenic (1) |
|
- | RCV003444070.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024