NM_000046.5(ARSB):c.1127T>A (p.Val376Glu) 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:
RCV000677449.1

Allele description [Variation Report for NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)]

NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)

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.1127T>A (p.Val376Glu)
HGVS:
  • NC_000005.10:g.78885599A>T
  • NG_007089.1:g.105936T>A
  • NM_000046.5:c.1127T>AMANE SELECT
  • NM_198709.3:c.1127T>A
  • NP_000037.2:p.Val376Glu
  • NP_942002.1:p.Val376Glu
  • NC_000005.9:g.78181422A>T
  • NM_000046.4:c.1127T>A
Protein change:
V376E
Links:
dbSNP: rs1554079268
NCBI 1000 Genomes Browser:
rs1554079268
Molecular consequence:
  • NM_000046.5:c.1127T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.1127T>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
SCV000802952Laboratory 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

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A.

Am J Med Genet A. 2014 Jun;164A(6):1443-53. doi: 10.1002/ajmg.a.36489. Epub 2014 Mar 27.

PubMed [citation]
PMID:
24677745

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN, Steglich C, Santer R, Lukacs Z, Gal A.

JIMD Rep. 2015;15:123-32. doi: 10.1007/8904_2014_308. Epub 2014 May 6.

PubMed [citation]
PMID:
24798265
PMCID:
PMC4270870
See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000802952.1

#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: Nov 27, 2021

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