NM_000046.5(ARSB):c.532_533inv (p.His178Cys) AND Mucopolysaccharidosis type 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 2021
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:: RCV001945069.4

Allele description [Variation Report for NM_000046.5(ARSB):c.532_533inv (p.His178Cys)]

NM_000046.5(ARSB):c.532_533inv (p.His178Cys)

Gene:

ARSB:arylsulfatase B [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_000046.5(ARSB):c.532_533inv (p.His178Cys)

HGVS:

NC_000005.10:g.78964573_78964574inv
NG_007089.1:g.26961_26962inv
NM_000046.5:c.532_533invMANE SELECT
NM_198709.3:c.532_533inv
NP_000037.2:p.His178Cys
NP_942002.1:p.His178Cys
NC_000005.9:g.78260396_78260397delinsCA
NC_000005.9:g.78260396_78260397inv

Protein change:

H178C

Molecular consequence:

NM_000046.5:c.532_533inv - missense variant - [Sequence Ontology: SO:0001583]
NM_198709.3:c.532_533inv - missense variant - [Sequence Ontology: SO:0001583]

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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Homo sapiens CUGBP Elav-like family member 6 (CELF6), transcript variant 1, mRNA
Homo sapiens CUGBP Elav-like family member 6 (CELF6), transcript variant 1, mRNA
gi|219878492|ref|NM_052840.4|

Nucleotide
ccdc134 [Poecilia latipinna]
ccdc134 [Poecilia latipinna]
Gene ID:106950702

Gene
Nucleotide Links for PopSet (Select 1464209912) (41)
Nucleotide
BioProject Links for SRA (Select 9024541) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002180141	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 29, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24243352, 25060283, 30524696, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002180141

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 29, 2021)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A, Onenli-Mungan N, Elcioglu N, Ozbek MN, Kör D, Lenzini E, Scarpa M, Tomanin R.

JIMD Rep. 2014;14:1-9. doi: 10.1007/8904_2013_276. Epub 2013 Nov 16.

PubMed [citation]

PMID:: 24243352
PMCID:: PMC4213335

A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.

Costa-Motta FM, Bender F, Acosta A, Abé-Sandes K, Machado T, Bomfim T, Boa Sorte T, da Silva D, Bittles A, Giugliani R, Leistner-Segal S.

Hum Hered. 2014;77(1-4):189-96. doi: 10.1159/000358404. Epub 2014 Jul 29.

PubMed [citation]

PMID:: 25060283

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002180141.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.His178Asp amino acid residue in ARSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24243352, 25060283, 30524696). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces histidine with cysteine at codon 178 of the ARSB protein (p.His178Cys). The histidine residue is highly conserved and there is a large physicochemical difference between histidine and cysteine.

#	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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