NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) AND Mucopolysaccharidosis, MPS-III-B

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000132721.1

Allele description [Variation Report for NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)]

NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)

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.1946G>T (p.Trp649Leu)

HGVS:

NC_000017.11:g.42543952G>T
NG_011552.1:g.13020G>T
NM_000263.4:c.1946G>TMANE SELECT
NP_000254.2:p.Trp649Leu
NC_000017.10:g.40695970G>T
NM_000263.3:c.1946G>T

Protein change:

W649L

Links:

dbSNP: rs527236038

NCBI 1000 Genomes Browser:

rs527236038

Molecular consequence:

NM_000263.4:c.1946G>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000187650	Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	no assertion criteria provided	pathogenic	inherited	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000187650

Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health

no assertion criteria provided

pathogenic

inherited

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health, SCV000187650.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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