NM_000046.5(ARSB):c.293T>C (p.Leu98Pro) AND Mucopolysaccharidosis type 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 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:: RCV000677540.1

Allele description [Variation Report for NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)]

NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)

Genes:

LOC129994126:ATAC-STARR-seq lymphoblastoid silent region 16127 [Gene]
ARSB:arylsulfatase B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)

HGVS:

NC_000005.10:g.78984956A>G
NG_007089.1:g.6579T>C
NM_000046.5:c.293T>CMANE SELECT
NM_198709.3:c.293T>C
NP_000037.2:p.Leu98Pro
NP_942002.1:p.Leu98Pro
NC_000005.9:g.78280779A>G
NM_000046.4:c.293T>C

Protein change:

L98P

Links:

dbSNP: rs1554032090

NCBI 1000 Genomes Browser:

rs1554032090

Molecular consequence:

NM_000046.5:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198709.3:c.293T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mucopolysaccharidosis type 6 (MPS6)
Synonyms:: ARSB DEFICIENCY; ARYLSULFATASE B DEFICIENCY; MPS VI; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009661; MedGen: C0026709; Orphanet: 583; OMIM: 253200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000803053	Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 1, 2018)	germline	curation	PubMed (4) [See all records that cite these PMIDs] 24798265, 10923267, 25741868, 30118150

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000803053

Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 1, 2018)

germline

curation

PubMed (4)
[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	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN, Steglich C, Santer R, Lukacs Z, Gal A.

JIMD Rep. 2015;15:123-32. doi: 10.1007/8904_2014_308. Epub 2014 May 6.

PubMed [citation]

PMID:: 24798265
PMCID:: PMC4270870

[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].

Voskoboeva EIu, Krasnopol'skaia KD, Peters K, von Figura K.

Genetika. 2000 Jun;36(6):837-43. Russian.

PubMed [citation]

PMID:: 10923267

See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova, SCV000803053.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

Description

Absent from GnomAD (PM2)

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

Last Updated: May 16, 2025

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