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NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 18, 2020
Accession:
VCV000143188.3
Variation ID:
143188
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)

Allele ID
152906
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543955 (GRCh38) GRCh38 UCSC
17: 40695973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695973G>A
NC_000017.11:g.42543955G>A
NM_000263.4:c.1949G>A MANE Select NP_000254.2:p.Gly650Glu missense
... more HGVS
Protein change
G650E
Other names
-
Canonical SPDI
NC_000017.11:42543954:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA170087
UniProtKB: P54802#VAR_054736
dbSNP: rs527236037
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Mar 29, 2017 RCV000132722.1
Pathogenic 1 criteria provided, single submitter Apr 18, 2020 RCV001036826.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NAGLU - - GRCh38
GRCh37
459 471

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 18, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001200209.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces glycine with glutamic acid at codon 650 of the NAGLU protein (p.Gly650Glu). The glycine residue is highly conserved and there is … (more)
Likely pathogenic
(Mar 29, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: unknown
Counsyl
Accession: SCV000790585.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
pathogenic
(-)
no assertion criteria provided
Method: not provided
Mucopolysaccharidosis, MPS-III-B
Allele origin: inherited
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health
Accession: SCV000187651.1
Submitted: (Aug 05, 2014)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. Brady J BMJ case reports 2013 PMID: 23661660
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. Pollard LM Journal of inherited metabolic disease 2013 PMID: 22976768
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

Text-mined citations for rs527236037...

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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 May 10, 2021