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NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 21, 2020
Accession:
VCV001060579.1
Variation ID:
1060579
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)

Allele ID
1050274
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42536495 (GRCh38) GRCh38 UCSC
17: 40688513 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40688513G>C
NC_000017.11:g.42536495G>C
NM_000263.4:c.223G>C MANE Select NP_000254.2:p.Val75Leu missense
NG_011552.1:g.5563G>C
Protein change
V75L
Other names
-
Canonical SPDI
NC_000017.11:42536494:G:C
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 21, 2020 RCV001370030.1
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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
(Apr 21, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001566491.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with leucine at codon 75 of the NAGLU protein (p.Val75Leu). The valine residue is moderately 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 Apr 18, 2021