Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Oct 22, 2021)
Last evaluated:
Sep 13, 2021
Accession:
VCV000557013.4
Variation ID:
557013
Description:
single nucleotide variant
Help

NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)

Allele ID
548160
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543700 (GRCh38) GRCh38 UCSC
17: 40695718 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695718G>T
NC_000017.11:g.42543700G>T
NG_011552.1:g.12768G>T
NM_000263.4:c.1694G>T MANE Select NP_000254.2:p.Arg565Leu missense
Protein change
R565L
Other names
-
Canonical SPDI
NC_000017.11:42543699:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs104894598
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 19, 2019 RCV001070181.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 13, 2021 RCV000673096.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 02, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: unknown
Counsyl
Accession: SCV000798264.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 19, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001235397.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces arginine with leucine at codon 565 of the NAGLU protein (p.Arg565Leu). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Sep 13, 2021)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001983439.1
Submitted: (Oct 22, 2021)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: NAGLU c.1694G>T (p.Arg565Leu) results in a non-conservative amino acid change located in the Alpha-N-acetylglucosaminidase, C-terminal (IPR024732) of the encoded protein sequence. Five of … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses. Kadali S Molecular and cellular biochemistry 2019 PMID: 30903511
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. Al-Jasmi FA JIMD reports 2013 PMID: 23430803
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. Chinen Y Journal of human genetics 2005 PMID: 15933803
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 rs104894598...

Help
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