ClinVar Genomic variation as it relates to human health
NM_001493.3(GDI1):c.671A>G (p.Tyr224Cys)
Germline
Classification
(1)
Likely pathogenic
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 | |||
GDI1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
88 | 310 | |
ATP6AP1 | - | - |
GRCh38 GRCh37 |
243 | 467 | |
FAM50A | - | - |
GRCh38 GRCh37 |
34 | 255 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 20, 2023 | RCV003441153.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2023