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NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 23, 2020
Accession:
VCV001010878.1
Variation ID:
1010878
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)

Allele ID
997553
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42536511 (GRCh38) GRCh38 UCSC
17: 40688529 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40688529C>T
NC_000017.11:g.42536511C>T
NM_000263.4:c.239C>T MANE Select NP_000254.2:p.Ser80Phe missense
NG_011552.1:g.5579C>T
Protein change
S80F
Other names
-
Canonical SPDI
NC_000017.11:42536510:C: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 Jan 23, 2020 RCV001308591.1
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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
(Jan 23, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001498050.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with phenylalanine at codon 80 of the NAGLU protein (p.Ser80Phe). The serine 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 Mar 12, 2021