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NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) AND Gaucher disease type III

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1991
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000004520.11

Allele description [Variation Report for NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)]

NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
Other names:
V394L
HGVS:
  • NC_000001.11:g.155235772C>A
  • NG_009783.1:g.13926G>T
  • NG_042867.1:g.2234C>A
  • NM_000157.4:c.1297G>TMANE SELECT
  • NM_001005741.3:c.1297G>T
  • NM_001005742.3:c.1297G>T
  • NM_001171811.2:c.1036G>T
  • NM_001171812.2:c.1150G>T
  • NP_000148.2:p.Val433Leu
  • NP_001005741.1:p.Val433Leu
  • NP_001005742.1:p.Val433Leu
  • NP_001165282.1:p.Val346Leu
  • NP_001165283.1:p.Val384Leu
  • NC_000001.10:g.155205563C>A
  • NM_000157.3:c.1297G>T
  • NM_001005741.2:c.1297G>T
  • NM_001005741.3:c.1297G>T
  • NM_001005742.2:c.1297G>T
  • P04062:p.Val433Leu
  • c.1297G>T (p.Val433Leu)
Protein change:
V346L; VAL394LEU
Links:
UniProtKB: P04062#VAR_003310; OMIM: 606463.0005; dbSNP: rs80356769
NCBI 1000 Genomes Browser:
rs80356769
Molecular consequence:
  • NM_000157.4:c.1297G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1297G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1297G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.1036G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1150G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease type III
Synonyms:
GD III; GD 3; Gaucher disease, juvenile and adult, cerebral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024694OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1991) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

Theophilus B, Latham T, Grabowski GA, Smith FI.

Am J Hum Genet. 1989 Aug;45(2):212-25.

PubMed [citation]
PMID:
2502917
PMCID:
PMC1683351

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.

Latham TE, Theophilus BD, Grabowski GA, Smith FI.

DNA Cell Biol. 1991 Jan-Feb;10(1):15-21.

PubMed [citation]
PMID:
1899336

Details of each submission

From OMIM, SCV000024694.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Theophilus et al. (1989) and Latham et al. (1990) identified a heterozygous 5912G-T transversion in the GBA gene, resulting in a val394-to-leu (V394L) substitution, in an Ashkenazi Jewish/Irish patient with Gaucher disease type III (231000) and an Ashkenazi Jewish patient with Gaucher disease type I (230800). The patient with type III disease was compound heterozygous for the V394L substitution on 1 allele and a complex substitution (606463.0009) and D409H (606463.0006) on the other allele. He developed psychomotor retardation and myoclonic seizures by age 5 years and died at 6 years. The patient with type I disease was compound heterozygous for V394L and N370S (606463.0003). Latham et al. (1990) suggested that the N370S allele protected the type I patient from the development of neuronopathic disease.

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

Last Updated: Jun 23, 2024