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NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 10, 2020
Accession:
VCV000553204.3
Variation ID:
553204
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)

Allele ID
548897
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42541185 (GRCh38) GRCh38 UCSC
17: 40693203 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40693203G>T
NC_000017.11:g.42541185G>T
NM_000263.4:c.1000G>T MANE Select NP_000254.2:p.Val334Phe missense
NG_011552.1:g.10253G>T
Protein change
V334F
Other names
-
Canonical SPDI
NC_000017.11:42541184:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs749140168
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 7, 2017 RCV000668600.1
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2020 RCV001378697.1
Pathogenic 1 no assertion criteria provided Sep 4, 2019 RCV001030806.1
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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
452 464

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 07, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: unknown
Counsyl
Accession: SCV000793229.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001576323.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with phenylalanine at codon 334 of the NAGLU protein (p.Val334Phe). The valine residue is moderately conserved and there is a … (more)
Pathogenic
(Sep 04, 2019)
no assertion criteria provided
Method: literature only
None
Allele origin: germline
GeneReviews
Accession: SCV001194295.1
Submitted: (Oct 17, 2019)
Evidence details
Publications
PubMed (4)
BookShelf: NBK546574

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 III Wagner VF - 2019 PMID: 31536183
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. Valstar MJ Journal of inherited metabolic disease 2010 PMID: 20852935
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
Genotype-phenotype correspondence in Sanfilippo syndrome type B. Zhao HG American journal of human genetics 1998 PMID: 9443875

Text-mined citations for rs749140168...

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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 13, 2021