ClinVar Genomic variation as it relates to human health
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
Germline
Classification
(3)
Pathogenic/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 | |||
LOC130067862 | - | - | - | GRCh38 | - | 486 |
SCO2 | - | - |
GRCh38 GRCh37 |
4 | 872 | |
TYMP | - | - |
GRCh38 GRCh37 |
451 | 1095 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 22, 2022 | RCV003050585.9 | |
Likely pathogenic (2) |
|
Sep 2, 2023 | RCV003147815.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024