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NM_000404.4(GLB1):c.1634dup (p.Asn545fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 22, 2020
Accession:
VCV000550413.2
Variation ID:
550413
Description:
1bp duplication
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NM_000404.4(GLB1):c.1634dup (p.Asn545fs)

Allele ID
543109
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p22.3
Genomic location
3: 33014155-33014156 (GRCh38) GRCh38 UCSC
3: 33055647-33055648 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.33055649dup
NC_000003.12:g.33014157dup
NG_009005.1:g.88047dup
... more HGVS
Protein change
N593fs, N414fs, N515fs, N545fs
Other names
-
Canonical SPDI
NC_000003.12:33014155:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs754131566
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 19, 2017 RCV000665150.1
Pathogenic 1 criteria provided, single submitter Apr 22, 2020 RCV001380450.1
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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
464 506

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 19, 2017)
criteria provided, single submitter
Method: clinical testing
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
Allele origin: unknown
Counsyl
Accession: SCV000789219.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Apr 22, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Allele origin: germline
Invitae
Accession: SCV001578531.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the GLB1 gene (p.Asn545Lysfs*40). While this is not anticipated to result in nonsense mediated … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs754131566...

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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 Oct 24, 2021