ClinVar Genomic variation as it relates to human health
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); Uncertain significance(2)
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 | |||
TRMT10C | - | - |
GRCh38 GRCh37 |
50 | 64 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 13, 2022 | RCV002465009.3 | |
Uncertain significance (1) |
|
Sep 29, 2022 | RCV002573561.2 | |
Uncertain significance (1) |
|
Jul 6, 2023 | RCV003331369.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024