ClinVar Genomic variation as it relates to human health
NM_001164277.2(SLC37A4):c.148+1G>A
Germline
Classification
(5)
Pathogenic/Likely pathogenic
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 | |||
SLC37A4 | - | - |
GRCh38 GRCh38 GRCh37 |
1010 | 1051 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (3) |
|
Feb 23, 2024 | RCV000007344.10 | |
Likely pathogenic (1) |
|
Jul 29, 2021 | RCV002496291.1 | |
Pathogenic (1) |
|
Mar 1, 1999 | RCV002223174.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs1943672400 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024
NCBI staff provided an HGVS expression for allelic variant 602671.0005 from the sequence reported in Figure 3 of the paper by Kure et al., 1998 (PubMed 9675154).