NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) AND Mucopolysaccharidosis

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001030809.2

Allele description [Variation Report for NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)]

NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)

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.1834A>G (p.Ser612Gly)

HGVS:

NC_000017.11:g.42543840A>G
NG_011552.1:g.12908A>G
NM_000263.4:c.1834A>GMANE SELECT
NP_000254.2:p.Ser612Gly
NC_000017.10:g.40695858A>G
NM_000263.3:c.1834A>G
p.S612G

Protein change:

S612G

Links:

dbSNP: rs148881970

NCBI 1000 Genomes Browser:

rs148881970

Molecular consequence:

NM_000263.4:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mucopolysaccharidosis
Synonyms:: Mucopolysaccharidoses
Identifiers:: MONDO: MONDO:0019249; MeSH: D009083; MedGen: C0026703; OMIM: PS607014

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001194298	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 20852935, 31536183

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001194298

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA.

J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18.

PubMed [citation]

PMID:: 20852935
PMCID:: PMC2992652

Mucopolysaccharidosis Type III..

Wagner VF, Northrup H.

2019 Sep 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

PubMed [citation]

PMID:: 31536183

Details of each submission

From GeneReviews, SCV001194298.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

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

Last Updated: Sep 6, 2025

ClinVar

Relating variation to medicine