NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter) AND Familial renal glucosuria

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013767.25

Allele description [Variation Report for NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)]

NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)

Gene:
SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)
HGVS:
  • NC_000016.10:g.31488919G>A
  • NG_012892.1:g.10802G>A
  • NG_033149.1:g.24501C>T
  • NM_003041.4:c.1320G>AMANE SELECT
  • NP_003032.1:p.Trp440Ter
  • NC_000016.9:g.31500240G>A
Protein change:
W440*; TRP440TER
Links:
OMIM: 182381.0001; dbSNP: rs121918621
NCBI 1000 Genomes Browser:
rs121918621
Molecular consequence:
  • NM_003041.4:c.1320G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial renal glucosuria (GLYS)
Synonyms:
Glycosuria, Renal; RENAL GLUCOSURIA, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0009297; MedGen: C0017980; Orphanet: 69076; OMIM: 233100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034014OMIMno assertion criteria providedPathogenic
(Dec 1, 2002)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).

van den Heuvel LP, Assink K, Willemsen M, Monnens L.

Hum Genet. 2002 Dec;111(6):544-7. Epub 2002 Sep 27.

PubMed [citation]
PMID:
12436245

Details of each submission

From OMIM, SCV000034014.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Turkish patient, born to consanguineous parents, with renal glucosuria (GLYS; 233100), van den Heuvel et al. (2002) found a homozygous G-to-A transition at position 1320 within exon 11 of the SGLT2 gene, resulting in a change in codon 440 from TGG (trp) to TGA (ter). The mutation resulted in a truncated SGLT2 protein lacking 232 amino acids of the C-terminal part of the protein. At the age of 2 years, the boy was referred because of development delay and movement disorder. He had mild mental retardation, cerebellar ataxia, nonepileptic myoclonic jerks of the neck and limbs, and mild kyphoscoliosis. There was no amino aciduria or metabolic acidosis. The patient excreted 61.6 g/l of glucose in the presence of normal blood glucose levels. Van den Heuvel et al. (2002) stated that they had no explanation for the neurologic symptoms in their proband. They could, however, exclude a defect in the transport of glucose into the brain because of normal glucose concentration in the cerebrospinal fluid. Glucose is transported into the brain by facilitated diffusion. Two types of glucose transporters, GLUT1 (138140) and GLUT3 (138170), are localized in the membranes of brain endothelial cells and are distinct from SGLT2.

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

Last Updated: Jun 14, 2021

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