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NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001584227.1

Allele description [Variation Report for NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)]

NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)

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.288C>G (p.Ser96Arg)
HGVS:
  • NC_000005.10:g.78984961G>C
  • NG_007089.1:g.6574C>G
  • NM_000046.5:c.288C>GMANE SELECT
  • NM_198709.3:c.288C>G
  • NP_000037.2:p.Ser96Arg
  • NP_942002.1:p.Ser96Arg
  • NC_000005.9:g.78280784G>C
  • NM_000046.3:c.288C>G
  • NM_000046.4:c.288C>G
Protein change:
S96R
Links:
dbSNP: rs1554032095
NCBI 1000 Genomes Browser:
rs1554032095
Molecular consequence:
  • NM_000046.5:c.288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.288C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001821505Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Aug 10, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001821505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: ARSB c.288C>G (p.Ser96Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 142908 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.288C>G has been reported in the literature in one individual affected with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). This report does not provide unequivocal conclusions about association of the variant with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 23, 2022

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