ClinVar Genomic variation as it relates to human health
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)
Likely pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
PPP1CB | - | - |
GRCh38 GRCh37 |
246 | 275 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV001251212.1 | |
Likely pathogenic (1) |
|
Aug 28, 2020 | RCV001293456.2 | |
Uncertain significance (1) |
|
Jan 7, 2022 | RCV002282501.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2023