NM_000157.4(GBA):c.509G>T (p.Arg170Leu) AND Gaucher disease, perinatal lethal

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2000)

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:
RCV000004574.3

Allele description [Variation Report for NM_000157.4(GBA):c.509G>T (p.Arg170Leu)]

NM_000157.4(GBA):c.509G>T (p.Arg170Leu)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA:glucosylceramidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA):c.509G>T (p.Arg170Leu)
Other names:
R131L
HGVS:
  • NC_000001.11:g.155238596C>A
  • NG_009783.1:g.11102G>T
  • NG_042867.1:g.5058C>A
  • NM_000157.4:c.509G>TMANE SELECT
  • NM_001005741.3:c.509G>T
  • NM_001005742.3:c.509G>T
  • NM_001171811.2:c.248G>T
  • NM_001171812.2:c.362G>T
  • NP_000148.2:p.Arg170Leu
  • NP_001005741.1:p.Arg170Leu
  • NP_001005742.1:p.Arg170Leu
  • NP_001165282.1:p.Arg83Leu
  • NP_001165283.1:p.Arg121Leu
  • NC_000001.10:g.155208387C>A
  • NM_000157.2:c.509G>T
  • NM_000157.3(GBA):c.509G>T
  • P04062:p.Arg170Leu
Protein change:
R121L; ARG131LEU
Links:
UniProtKB: P04062#VAR_009036; OMIM: 606463.0042; dbSNP: rs80356763
NCBI 1000 Genomes Browser:
rs80356763
Molecular consequence:
  • NM_000157.4:c.509G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.509G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.509G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.362G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease, perinatal lethal
Synonyms:
Gaucher disease collodion type; Gaucher disease, perinatal-lethal form
Identifiers:
MONDO: MONDO:0011945; MedGen: C1842704; OMIM: 608013

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024748OMIMno assertion criteria providedPathogenic
(Mar 1, 2000)
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

Type 2 Gaucher disease: the collodion baby phenotype revisited.

Stone DL, Carey WF, Christodoulou J, Sillence D, Nelson P, Callahan M, Tayebi N, Sidransky E.

Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6.

PubMed [citation]
PMID:
10685993
PMCID:
PMC1721053

Details of each submission

From OMIM, SCV000024748.2

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

Description

In a sib pair with perinatal lethal Gaucher disease (608013), born to Mexican parents, Stone et al. (2000) detected homozygosity for a mutation in the GBA gene resulting in an arg131-to-leu (R131L) substitution. The parents were unaware of any common ancestry, and genetic studies to confirm or refute consanguinity were not possible. The first-born was a male infant with collodion skin at birth which improved within 2 weeks. He subsequently developed rapidly progressive neurologic disease and died at 7 months. Fibroblast glucocerebrosidase activity was 3% of control values. His sister was diagnosed by prenatal enzyme assay and was born at 37 weeks' gestation with collodion skin and hepatosplenomegaly. Her skin condition resolved during the first month of life, but she developed neurologic abnormalities and died at age 9 months.

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

Last Updated: Sep 29, 2021

Support Center