ClinVar Genomic variation as it relates to human health
NM_006441.4(MTHFS):c.14C>T (p.Ala5Val)
Germline
Classification
(2)
Benign
criteria provided, single submitter
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 | |||
MTHFS | - | - |
GRCh38 GRCh37 |
- | 69 | |
ST20-MTHFS | - | - | - |
GRCh38 GRCh37 |
- | 71 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 22, 2024 | RCV002907767.3 | |
MTHFS-related disorder
|
Benign (1) |
|
Jun 27, 2019 | RCV003936329.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024