NM_000046.5(ARSB):c.956G>A (p.Trp319Ter) AND Mucopolysaccharidosis type 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2022
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:: RCV003005582.3

Allele description [Variation Report for NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)]

NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)

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.956G>A (p.Trp319Ter)

HGVS:

NC_000005.10:g.78885770C>T
NG_007089.1:g.105765G>A
NM_000046.5:c.956G>AMANE SELECT
NM_198709.3:c.956G>A
NP_000037.2:p.Trp319Ter
NP_942002.1:p.Trp319Ter
NC_000005.9:g.78181593C>T

Protein change:

W319*

Molecular consequence:

NM_000046.5:c.956G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_198709.3:c.956G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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olfactory receptor 6C3 isoform 1 [Homo sapiens]
olfactory receptor 6C3 isoform 1 [Homo sapiens]
gi|1934971173|ref|NP_001375427.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003306347	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 3, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17458871, 22133300, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003306347

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 3, 2022)

germline

clinical testing

PubMed (3)
[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	clinical testing

Citations

PubMed

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ.

Hum Mutat. 2007 Sep;28(9):897-903.

PubMed [citation]

PMID:: 17458871

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.

Jurecka A, Piotrowska E, Cimbalistiene L, Gusina N, Sobczyńska A, Czartoryska B, Czerska K, Õunap K, Węgrzyn G, Tylki-Szymańska A.

Mol Genet Metab. 2012 Feb;105(2):237-43. doi: 10.1016/j.ymgme.2011.11.003. Epub 2011 Nov 11.

PubMed [citation]

PMID:: 22133300

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003306347.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ARSB-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp319*) in the ARSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300).

#	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 29, 2024

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