U.S. flag

An official website of the United States government

NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) AND Mucopolysaccharidosis, MPS-III-B

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 3, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000674403.3

Allele description [Variation Report for NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)]

NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
HGVS:
  • NC_000017.11:g.42543778T>C
  • NG_011552.1:g.12846T>C
  • NM_000263.4:c.1772T>CMANE SELECT
  • NP_000254.2:p.Leu591Pro
  • NC_000017.10:g.40695796T>C
  • NM_000263.3:c.1772T>C
Protein change:
L591P
Links:
dbSNP: rs1215582852
NCBI 1000 Genomes Browser:
rs1215582852
Molecular consequence:
  • NM_000263.4:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799732Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 3, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV002093280Natera, Inc.
no assertion criteria provided
Uncertain significance
(Feb 3, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000799732.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002093280.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024