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NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 11, 2020
Accession:
VCV000643204.3
Variation ID:
643204
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)

Allele ID
645903
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543283 (GRCh38) GRCh38 UCSC
17: 40695301 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695301G>A
NC_000017.11:g.42543283G>A
NM_000263.4:c.1277G>A MANE Select NP_000254.2:p.Gly426Asp missense
NG_011552.1:g.12351G>A
Protein change
G426D
Other names
-
Canonical SPDI
NC_000017.11:42543282:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs771151036
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 Jan 11, 2020 RCV000796856.3
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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
(Jan 11, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV000936387.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with aspartic acid at codon 426 of the NAGLU protein (p.Gly426Asp). The glycine residue is highly conserved and there is … (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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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 rs771151036...

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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 Mar 07, 2021