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NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 11, 2019
Accession:
VCV000862122.2
Variation ID:
862122
Description:
2bp deletion
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NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)

Allele ID
845345
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543294-42543295 (GRCh38) GRCh38 UCSC
17: 40695312-40695313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695312_40695313del
NC_000017.11:g.42543294_42543295del
NG_011552.1:g.12362_12363del
NM_000263.4:c.1288_1289del MANE Select NP_000254.2:p.Ala430fs frameshift
Protein change
A430fs
Other names
-
Canonical SPDI
NC_000017.11:42543293:GC:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2092926507
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 11, 2019 RCV001068784.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Pathogenic
(Oct 11, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001233916.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the NAGLU gene (p.Ala430Profs*30). 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
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Weber B European journal of human genetics : EJHG 1999 PMID: 10094189
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). Beesley CE Journal of medical genetics 1998 PMID: 9832037
The molecular basis of Sanfilippo syndrome type B. Zhao HG Proceedings of the National Academy of Sciences of the United States of America 1996 PMID: 8650226

Text-mined citations for rs2092926507...

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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