ClinVar Genomic variation as it relates to human health
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); Uncertain significance(2)
criteria provided, conflicting classifications
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 | |||
SLC5A7 | - | - |
GRCh38 GRCh37 |
488 | 534 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 17, 2022 | RCV002508903.3 | |
Uncertain significance (1) |
|
Dec 20, 2023 | RCV003775558.1 | |
Uncertain significance (1) |
|
Mar 23, 2023 | RCV003326019.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024