ClinVar Genomic variation as it relates to human health
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Likely pathogenic(3); Uncertain significance(1)
Likely pathogenic(3); 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 | |||
IQCG | - | - |
GRCh38 GRCh37 |
23 | 197 | |
RPL35A | - | - |
GRCh38 GRCh37 |
- | 167 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (2) |
|
Jan 1, 2024 | RCV002308738.6 | |
Likely pathogenic (1) |
|
Apr 23, 2015 | RCV002427776.3 | |
Uncertain significance (1) |
|
Feb 11, 2023 | RCV003514552.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024