NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Dec 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000768318.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)]

NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)

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.1395C>T (p.Ser465=)
HGVS:
  • NC_000001.11:g.42927125G>A
  • NG_008232.1:g.37052C>T
  • NM_006516.4:c.1395C>TMANE SELECT
  • NP_006507.2:p.Ser465=
  • LRG_1132:g.37052C>T
  • NC_000001.10:g.43392796G>A
  • NM_006516.2:c.1395C>T
Links:
dbSNP: rs75852730
NCBI 1000 Genomes Browser:
rs75852730
Molecular consequence:
  • NM_006516.4:c.1395C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)
Synonyms:
GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS; Hereditary cryohydrocytosis with reduced stomatin
Identifiers:
MONDO: MONDO:0012143; MedGen: C1837206; Orphanet: 168577; OMIM: 608885
Name:
Dystonia 9 (DYT9)
Synonyms:
CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
Identifiers:
MONDO: MONDO:0010983; MedGen: C1832855; OMIM: 601042
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
Name:
GLUT1 deficiency syndrome 2 (GLUT1DS2)
Synonyms:
PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012805; MedGen: C1842534; Orphanet: 98811; OMIM: 612126
Name:
Epilepsy, idiopathic generalized, susceptibility to, 12 (EIG12)
Identifiers:
MONDO: MONDO:0013919; MedGen: C3553859; OMIM: 614847

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898978Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Uncertain significance
(Dec 5, 2017)
germlineclinical testing

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

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000898978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

SLC2A1 NM_006516.2 exon 10 p.Ser465= (c.1395C>T): This variant has not been reported in the literature but is present in 4/34420 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs75852730). This variant is present in ClinVar (Variation ID:212203). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Nov 27, 2021

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