NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Oct 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001068784.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)]

NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
HGVS:
  • NC_000017.11:g.42543294_42543295del
  • NG_011552.1:g.12362_12363del
  • NM_000263.4:c.1288_1289delMANE SELECT
  • NP_000254.2:p.Ala430fs
  • NC_000017.10:g.40695312_40695313del
  • NM_000263.3:c.1288_1289del
Protein change:
A430fs
Links:
dbSNP: rs2092926507
NCBI 1000 Genomes Browser:
rs2092926507
Molecular consequence:
  • NM_000263.4:c.1288_1289del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-B (MPS3B)
Synonyms:
NAGLU DEFICIENCY; Mucopoly-saccharidosis type 3B; Sanfilippo syndrome B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009656; MedGen: C0086648; OMIM: 252920
Name:
Charcot-Marie-Tooth disease, axonal type 2V (CMT2V)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
Identifiers:
MONDO: MONDO:0014665; MedGen: C4225306; Orphanet: 447964; OMIM: 616491

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001233916Invitaecriteria provided, single submitter
Pathogenic
(Oct 11, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE, Young EP, Vellodi A, Winchester BG.

J Med Genet. 1998 Nov;35(11):910-4.

PubMed [citation]
PMID:
9832037
PMCID:
PMC1051483

The molecular basis of Sanfilippo syndrome type B.

Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF.

Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):6101-5.

PubMed [citation]
PMID:
8650226
PMCID:
PMC39196
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001233916.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change results in a premature translational stop signal in the NAGLU gene (p.Ala430Profs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 314 amino acids of the NAGLU protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NAGLU-related conditions. This variant disrupts the C-terminus of the NAGLU protein. Other variant(s) that disrupt this region (p.Arg626*) have been determined to be pathogenic (PMID: 9832037, 8650226, 10094189). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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