ClinVar Genomic variation as it relates to human health
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(3)
Likely pathogenic(1); Uncertain significance(3)
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 | |||
RPS26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
140 | 153 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (3) |
|
Mar 29, 2024 | RCV003135804.7 | |
Uncertain significance (1) |
|
Mar 14, 2023 | RCV003328723.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024