ClinVar Genomic variation as it relates to human health
NM_001294.4(CLPTM1):c.59G>A (p.Gly20Asp)
Germline
Classification
(2)
Uncertain significance
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 | |||
CLPTM1 | - | - |
GRCh38 GRCh37 |
75 | 91 | |
LOC130064657 | - | - | - | GRCh38 | - | 7 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CLPTM1-related disorder
|
Uncertain significance (1) |
|
Jan 9, 2024 | RCV003918946.1 |
Uncertain significance (1) |
|
Oct 27, 2022 | RCV004074310.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024