NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) AND Mucopolysaccharidosis type 6

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677606.1

Allele description [Variation Report for NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)]

NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)

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.908G>A (p.Gly303Glu)
HGVS:
  • NC_000005.10:g.78885818C>T
  • NG_007089.1:g.105717G>A
  • NM_000046.5:c.908G>AMANE SELECT
  • NM_198709.3:c.908G>A
  • NP_000037.2:p.Gly303Glu
  • NP_942002.1:p.Gly303Glu
  • NC_000005.9:g.78181641C>T
  • NM_000046.4:c.908G>A
Protein change:
G303E
Links:
dbSNP: rs1408739927
NCBI 1000 Genomes Browser:
rs1408739927
Molecular consequence:
  • NM_000046.5:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.908G>A - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000803123Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M, Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A.

Hum Gene Ther. 2015 Mar;26(3):145-52. doi: 10.1089/hum.2014.109.

PubMed [citation]
PMID:
25654180
PMCID:
PMC4367235

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Lin SP, Lin HY, Wang TJ, Chang CY, Lin CH, Huang SF, Tsai CC, Liu HL, Keutzer J, Chuang CK.

Orphanet J Rare Dis. 2013 Sep 22;8:147. doi: 10.1186/1750-1172-8-147.

PubMed [citation]
PMID:
24053568
PMCID:
PMC3849552
See all PubMed Citations (5)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)

Description

In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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