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NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 25, 2019
Accession:
VCV000968882.1
Variation ID:
968882
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)

Allele ID
958108
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42536513 (GRCh38) GRCh38 UCSC
17: 40688531 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40688531A>G
NC_000017.11:g.42536513A>G
NG_011552.1:g.5581A>G
NM_000263.4:c.241A>G MANE Select NP_000254.2:p.Thr81Ala missense
Protein change
T81A
Other names
-
Canonical SPDI
NC_000017.11:42536512:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2092906625
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 Jun 25, 2019 RCV001244118.1
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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
(Jun 25, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001417318.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with alanine at codon 81 of the NAGLU protein (p.Thr81Ala). The threonine 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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Title Author Journal Year Link
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells. Mauri V PloS one 2013 PMID: 23840811

Text-mined citations for rs2092906625...

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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