ClinVar Genomic variation as it relates to human health
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)
Germline
Classification
(3)
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 | |||
LOC130060550 | - | - | - | GRCh38 | - | 17 |
SLC46A1 | - | - |
GRCh38 GRCh37 |
165 | 358 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 14, 2024 | RCV004544220.1 | |
Likely pathogenic (1) |
|
Mar 14, 2024 | RCV004527245.1 | |
Likely pathogenic (1) |
|
Mar 14, 2024 | RCV004579636.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024