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NM_000404.4(GLB1):c.1577dup (p.Trp527fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 1, 2021)
Last evaluated:
Sep 17, 2020
Accession:
VCV000202191.13
Variation ID:
202191
Description:
1bp duplication
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NM_000404.4(GLB1):c.1577dup (p.Trp527fs)

Allele ID
198618
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p22.3
Genomic location
3: 33014212-33014213 (GRCh38) GRCh38 UCSC
3: 33055704-33055705 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.33055710dup
NC_000003.12:g.33014218dup
NG_009005.1:g.87990dup
... more HGVS
Protein change
W527fs, W575fs, W497fs, W396fs
Other names
1622_1627insG
Canonical SPDI
NC_000003.12:33014212:CCCCCC:CCCCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA203855
dbSNP: rs794729217
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 1, 2018 RCV000627406.3
Pathogenic 1 criteria provided, single submitter Jan 1, 2019 RCV000784901.2
Pathogenic 1 criteria provided, single submitter Sep 4, 2018 RCV000798976.1
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000987139.1
Pathogenic 1 criteria provided, single submitter Sep 17, 2020 RCV001260322.1
Pathogenic 2 no assertion criteria provided Apr 19, 2021 RCV000184037.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GLB1 - - GRCh38
GRCh37
466 508

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 03, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000748400.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1577dupG variant in the GLB1 gene has been reported previously using alternate nomenclature (1622-1627insG) in association with autosomal recessive GM1-gangliosidosis type I (Silva et … (more)
Pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
GLB1-Related Disorders
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000923441.1
Submitted: (Apr 08, 2019)
Evidence details
Pathogenic
(Sep 04, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Allele origin: germline
Invitae
Accession: SCV000938621.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Trp527Leufs*5) in the GLB1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
GM1 gangliosidosis type 2
Allele origin: unknown
Mendelics
Accession: SCV001136360.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
GM1 gangliosidosis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001437247.1
Submitted: (Oct 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: GLB1 c.1577dupG (p.Trp527LeufsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001248011.6
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Nov 26, 2013)
no assertion criteria provided
Method: clinical testing
Infantile GM1 gangliosidosis
Allele origin: germline
Mendelics
Accession: SCV000236568.1
Submitted: (Jun 21, 2015)
Evidence details
Publications
PubMed (3)
Pathogenic
(Apr 19, 2021)
no assertion criteria provided
Method: literature only
Infantile GM1 gangliosidosis
Allele origin: germline
GeneReviews
Accession: SCV001821205.1
Submitted: (Sep 01, 2021)
Evidence details
Publications
PubMed (1)
Comment:
High prevalence in Brazilian population; associated with GM1 infantile form

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
<i>GLB1-</i>Related Disorders Regier DS - 2021 PMID: 24156116
The Clinical and Molecular Spectrum of GM1 Gangliosidosis. Arash-Kaps L The Journal of pediatrics 2019 PMID: 31761138
Population analysis of the GLB1 gene in South Brazil. Baiotto C Genetics and molecular biology 2011 PMID: 21637542
Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Roze E Movement disorders : official journal of the Movement Disorder Society 2005 PMID: 15986423
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Silva CM Human mutation 1999 PMID: 10338095

Text-mined citations for rs794729217...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021