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NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000554101.5
Variation ID:
554101
Description:
single nucleotide variant
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NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)

Allele ID
543215
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.3
Genomic location
3: 33018485 (GRCh38) GRCh38 UCSC
3: 33059977 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.33059977T>C
NC_000003.12:g.33018485T>C
NG_009005.1:g.83718A>G
... more HGVS
Protein change
N437S, N306S, N407S, N485S
Other names
-
Canonical SPDI
NC_000003.12:33018484:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00260
Trans-Omics for Precision Medicine (TOPMed) 0.00308
Trans-Omics for Precision Medicine (TOPMed) 0.00275
1000 Genomes Project 0.00220
Links
dbSNP: rs202237232
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 29, 2017 RCV000669669.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001150120.1
Likely benign 1 criteria provided, single submitter Dec 1, 2020 RCV000874342.3
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001150121.1
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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
466 508

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 29, 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: SCV000794445.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
GM1 gangliosidosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001311133.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-IV-B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001311134.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Allele origin: germline
Invitae
Accession: SCV001016502.3
Submitted: (Jan 07, 2021)
Evidence details

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
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. Abulí A Human mutation 2016 PMID: 26990548

Text-mined citations for rs202237232...

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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