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NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) AND Gaucher disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 2023
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:
RCV003329161.2

Allele description [Variation Report for NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)]

NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)

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.637C>T (p.Leu213Phe)
HGVS:
  • NC_000001.11:g.155238258G>A
  • NG_009783.1:g.11440C>T
  • NG_042867.1:g.4720G>A
  • NM_000157.4:c.637C>TMANE SELECT
  • NM_001005741.3:c.637C>T
  • NM_001005742.3:c.637C>T
  • NM_001171811.2:c.376C>T
  • NM_001171812.2:c.490C>T
  • NP_000148.2:p.Leu213Phe
  • NP_001005741.1:p.Leu213Phe
  • NP_001005742.1:p.Leu213Phe
  • NP_001165282.1:p.Leu126Phe
  • NP_001165283.1:p.Leu164Phe
  • NC_000001.10:g.155208049G>A
  • P04062:p.Leu213Phe
Protein change:
L126F
Links:
UniProtKB: P04062#VAR_032202; dbSNP: rs374591570
NCBI 1000 Genomes Browser:
rs374591570
Molecular consequence:
  • NM_000157.4:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease
Synonyms:
Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018150; MedGen: C0017205

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004035973Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Apr 24, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004035973.1

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

Description

The GBA c.637C>T, (p.Leu213Phe), missense variant, to our knowledge, has not been reported in the peer-reviewed literature. This variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may impact the gene or gene product. Based on the available evidence, the c.637C>T, (p.Leu213Phe) variant is classified as a variant of uncertain significance for Gaucher disease.

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

Last Updated: Sep 30, 2023