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NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 30, 2021)
Last evaluated:
Jul 24, 2020
Accession:
VCV000836355.2
Variation ID:
836355
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)

Allele ID
845347
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42544165 (GRCh38) GRCh38 UCSC
17: 40696183 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40696183G>A
NC_000017.11:g.42544165G>A
NG_011552.1:g.13233G>A
NM_000263.4:c.2159G>A MANE Select NP_000254.2:p.Arg720Gln missense
Protein change
R720Q
Other names
-
Canonical SPDI
NC_000017.11:42544164:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00005
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
dbSNP: rs774971794
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 Oct 23, 2019 RCV001037469.1
Uncertain significance 1 criteria provided, single submitter Jul 24, 2020 RCV001593198.1
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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
Uncertain significance
(Oct 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: SCV001200884.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 720 of the NAGLU protein (p.Arg720Gln). The arginine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jul 24, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001815767.1
Submitted: (Aug 30, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs774971794...

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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