NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) 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:
RCV000677541.1

Allele description [Variation Report for NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)]

NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)

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>G (p.Leu98Arg)
HGVS:
  • NC_000005.10:g.78984956A>C
  • NG_007089.1:g.6579T>G
  • NM_000046.5:c.293T>GMANE SELECT
  • NM_198709.3:c.293T>G
  • NP_000037.2:p.Leu98Arg
  • NP_942002.1:p.Leu98Arg
  • NC_000005.9:g.78280779A>C
  • NM_000046.4:c.293T>G
Protein change:
L98R
Links:
dbSNP: rs1554032090
NCBI 1000 Genomes Browser:
rs1554032090
Molecular consequence:
  • NM_000046.5:c.293T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.293T>G - 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
SCV000803054Laboratory 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

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Uttarilli A, Ranganath P, Jain SJ, Prasad CK, Sinha A, Verma IC, Phadke SR, Puri RD, Danda S, Muranjan MN, Jevalikar G, Nagarajaram HA, Dalal AB.

Indian J Med Res. 2015 Oct;142(4):414-25. doi: 10.4103/0971-5916.169201.

PubMed [citation]
PMID:
26609033
PMCID:
PMC4683826

Mutations in ARSB in MPS VI patients in India.

Mathew J, Jagadeesh SM, Bhat M, Udhaya Kumar S, Thiyagarajan S, Srinivasan S.

Mol Genet Metab Rep. 2015 Sep;4:53-61. doi: 10.1016/j.ymgmr.2015.06.002.

PubMed [citation]
PMID:
26937411
PMCID:
PMC4750586
See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803054.1

#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); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3)

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

Last Updated: Oct 7, 2021

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