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NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Apr 12, 2019
Accession:
VCV000968712.1
Variation ID:
968712
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)

Allele ID
958107
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42536331 (GRCh38) GRCh38 UCSC
17: 40688349 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40688349G>T
NC_000017.11:g.42536331G>T
NM_000263.4:c.59G>T MANE Select NP_000254.2:p.Gly20Val missense
NG_011552.1:g.5399G>T
Protein change
G20V
Other names
-
Canonical SPDI
NC_000017.11:42536330:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Apr 12, 2019 RCV001243909.1
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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
459 471

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 12, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001417097.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces glycine with valine at codon 20 of the NAGLU protein (p.Gly20Val). The glycine residue is weakly conserved and there is a … (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.

Record last updated Mar 07, 2021