Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Dec 20, 2019
Accession:
VCV000215175.3
Variation ID:
215175
Description:
single nucleotide variant
Help

NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)

Allele ID
211490
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119025302 (GRCh38) GRCh38 UCSC
11: 118896012 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_187:g.10604T>C
LRG_187t1:c.1012T>C LRG_187p1:p.Phe338Leu
NM_001164277.1:c.1012T>C NP_001157749.1:p.Phe338Leu missense
... more HGVS
Protein change
F338L, F360L, F265L
Other names
-
Canonical SPDI
NC_000011.10:119025301:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00058
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00049
The Genome Aggregation Database (gnomAD) 0.00016
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00043
Links
dbSNP: rs200662873
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Dec 20, 2019 RCV000820095.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
686 719

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 20, 2019)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV000960789.2
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces phenylalanine with leucine at codon 338 of the SLC37A4 protein (p.Phe338Leu). The phenylalanine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 16, 2020)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type Ib
Allele origin: germline
Natera, Inc.
Accession: SCV001457210.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200662873...

Help
These 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 Oct 24, 2021