ClinVar Genomic variation as it relates to human health
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
Germline
Classification
(2)
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 | |||
NDUFS4 | - | - |
GRCh38 GRCh37 |
163 | 221 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 10, 2023 | RCV003155692.1 | |
Pathogenic (1) |
|
Feb 2, 2023 | RCV003466026.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023