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NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 23, 2019
Accession:
VCV000660650.3
Variation ID:
660650
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)

Allele ID
645904
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543952 (GRCh38) GRCh38 UCSC
17: 40695970 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695970G>A
NC_000017.11:g.42543952G>A
NG_011552.1:g.13020G>A
NM_000263.4:c.1946G>A MANE Select NP_000254.2:p.Trp649Ter nonsense
Protein change
W649*
Other names
-
Canonical SPDI
NC_000017.11:42543951:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Links
dbSNP: rs527236038
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 Feb 23, 2019 RCV000817898.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NAGLU - - GRCh38
GRCh37
462 474

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 23, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV000958483.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the NAGLU gene (p.Trp649*). 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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Title Author Journal Year Link
Genotype-phenotype correspondence in Sanfilippo syndrome type B. Zhao HG American journal of human genetics 1998 PMID: 9443875

Text-mined citations for rs527236038...

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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