ClinVar Genomic variation as it relates to human health
NM_002437.5(MPV17):c.210C>A (p.Tyr70Ter)
Germline
Classification
(2)
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 | |||
MPV17 | - | - |
GRCh38 GRCh37 |
318 | 348 | |
UCN | - | - |
GRCh38 GRCh37 |
11 | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 23, 2023 | RCV003128210.2 | |
Pathogenic (1) |
|
Dec 14, 2023 | RCV003575036.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024