ClinVar Genomic variation as it relates to human health
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
Germline
Classification
(7)
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 | |||
SLC2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1037 | 1075 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 13, 2022 | RCV002596063.2 | |
Uncertain significance (1) |
|
Jan 16, 2023 | RCV003138532.3 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003445205.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003445204.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003445206.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003445207.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003445203.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024