NM_000046.5(ARSB):c.511G>A (p.Gly171Ser) 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:
RCV000677573.1

Allele description [Variation Report for NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)]

NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)

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.511G>A (p.Gly171Ser)
HGVS:
  • NC_000005.10:g.78964595C>T
  • NG_007089.1:g.26940G>A
  • NM_000046.5:c.511G>AMANE SELECT
  • NM_198709.3:c.511G>A
  • NP_000037.2:p.Gly171Ser
  • NP_942002.1:p.Gly171Ser
  • NC_000005.9:g.78260418C>T
  • NM_000046.4:c.511G>A
Protein change:
G171S
Links:
dbSNP: rs1554087445
NCBI 1000 Genomes Browser:
rs1554087445
Molecular consequence:
  • NM_000046.5:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.511G>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
SCV000803089Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

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

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.

Karageorgos L, Brooks DA, Harmatz P, Ketteridge D, Pollard A, Melville EL, Parkinson-Lawrence E, Clements PR, Hopwood JJ.

Mol Genet Metab. 2007 Feb;90(2):164-70. Epub 2006 Dec 11.

PubMed [citation]
PMID:
17161971
See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803089.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

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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