NM_005271.4(GLUD1):c.1519C>T (p.His507Tyr) AND Hyperinsulinism-hyperammonemia syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 4, 2013)

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:
RCV000017501.22

Allele description

NM_005271.4(GLUD1):c.1519C>T (p.His507Tyr)

Gene:
GLUD1:glutamate dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_005271.4(GLUD1):c.1519C>T (p.His507Tyr)
HGVS:
  • NC_000010.11:g.87053380G>A
  • NG_013010.1:g.46640C>T
  • NM_005271.4:c.1519C>T
  • NP_005262.1:p.His507Tyr
  • NC_000010.10:g.88813137G>A
  • NM_005271.3:c.1519C>T
  • P00367:p.His507Tyr
Protein change:
H454Y; HIS454TYR
Links:
UniProtKB: P00367#VAR_008670; OMIM: 138130.0001; dbSNP: rs121909730
NCBI 1000 Genomes Browser:
rs121909730
Molecular consequence:
  • NM_005271.4:c.1519C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperinsulinism-hyperammonemia syndrome (HHF6)
Identifiers:
MedGen: C1847555; Orphanet: 35878; OMIM: 606762

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037773OMIMno assertion criteria providedPathogenic
(Oct 4, 2013)
germlineliterature only

Stanley, C. A., Lieu, Y., Hsu, B., Poncz, M. Hypoglycemia in infants with hyperinsulinism and hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. (Abstract) Diabetes 46 (suppl. 1): 217A-only, 1997.

Summary from all submissions

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

Details of each submission

From OMIM, SCV000037773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In an infant with the syndrome of hypoglycemia due to congenital hyperinsulinism combined with persistent unexplained hyperammonemia (606762), Stanley et al. (1997) identified heterozygosity for a C-to-T transition at nucleotide 1519 in the GLUD1 gene, predicted to cause a his454-to-tyr (H454Y) substitution in the mature protein. The patient was a sporadic case. Also see 138130.0002.

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

Last Updated: Sep 5, 2017