ClinVar Genomic variation as it relates to human health
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
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 | |||
POMT1 | - | - |
GRCh38 GRCh37 |
1156 | 1197 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 4, 2023 | RCV003472483.1 | |
Pathogenic (1) |
|
Jan 4, 2024 | RCV003779073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024