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NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 9, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000189366.4

Allele description [Variation Report for NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)]

NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)

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.971C>T (p.Ser324Leu)
Other names:
p.S324L:TCG>TTG
HGVS:
  • NC_000001.11:g.42929211G>A
  • NG_008232.1:g.34966C>T
  • NM_006516.4:c.971C>TMANE SELECT
  • NP_006507.2:p.Ser324Leu
  • LRG_1132:g.34966C>T
  • NC_000001.10:g.43394882G>A
  • NM_006516.2:c.971C>T
  • P11166:p.Ser324Leu
Protein change:
S324L
Links:
UniProtKB: P11166#VAR_065219; dbSNP: rs796053253
NCBI 1000 Genomes Browser:
rs796053253
Molecular consequence:
  • NM_006516.4:c.971C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000243004GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 9, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000243004.11

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

Description

Published functional studies demonstrate impaired glucose transport (Suls et al., 2009); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26986070, 20574033, 24847886, 19798636, 26633542, 21555602, 25487684, 25022942, 28717674, 29655203, 25099510)

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

Last Updated: Sep 29, 2024