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_006516.4(SLC2A1):c.498C>T (p.Val166=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000197282.6
Variation ID:
197282
Description:
single nucleotide variant
Help

NM_006516.4(SLC2A1):c.498C>T (p.Val166=)

Allele ID
194443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 42930644 (GRCh38) GRCh38 UCSC
1: 43396315 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.43396315G>A
NC_000001.11:g.42930644G>A
NG_008232.1:g.33533C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:42930643:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00018
The Genome Aggregation Database (gnomAD) 0.00038
The Genome Aggregation Database (gnomAD), exomes 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00033
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
Links
ClinGen: CA019200
dbSNP: rs150971143
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 31, 2015 RCV000178279.3
Likely benign 1 criteria provided, single submitter Jan 17, 2017 RCV000717977.1
Uncertain significance 1 criteria provided, single submitter Apr 12, 2017 RCV000724628.3
Benign 1 criteria provided, single submitter Nov 23, 2020 RCV001084789.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC2A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
642 666

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230331.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 31, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514678.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 17, 2017)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000848838.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
GLUT1 deficiency syndrome 1, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV001008518.3
Submitted: (Jan 07, 2021)
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
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLC2A1 - - - -

Text-mined citations for rs150971143...

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 30, 2021