NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) AND GLUT1 deficiency syndrome 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000147533.3

Allele description [Variation Report for NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)]

NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)

Gene:
SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
Other names:
p.I259I:ATC>ATT
HGVS:
  • NC_000001.11:g.42929683G>A
  • NG_008232.1:g.34494C>T
  • NM_006516.4:c.777C>TMANE SELECT
  • NP_006507.2:p.Ile259=
  • LRG_1132:g.34494C>T
  • NC_000001.10:g.43395354G>A
  • NM_006516.2:c.777C>T
  • NP_006507.2:p.(=)
  • p.Ile259Ile
Links:
dbSNP: rs78388808
NCBI 1000 Genomes Browser:
rs78388808
Molecular consequence:
  • NM_006516.4:c.777C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
GLUT1 deficiency syndrome 1 (GLUT1DS1)
Synonyms:
De Vivo disease; GLUT1 DS; Glucose transport defect, blood-brain barrier; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000194978Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Jul 7, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000357689Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000194978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000357689.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

Support Center