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NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1); Uncertain significance(1) (Last evaluated: Feb 21, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000435336.5

Allele description [Variation Report for NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)]

NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)

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.1325C>T (p.Thr442Met)
HGVS:
  • NC_000005.10:g.78781863G>A
  • NG_007089.1:g.209672C>T
  • NM_000046.5:c.1325C>TMANE SELECT
  • NP_000037.2:p.Thr442Met
  • NC_000005.9:g.78077686G>A
  • NM_000046.3:c.1325C>T
  • NM_000046.4:c.1325C>T
Protein change:
T442M
Links:
dbSNP: rs1057520739
NCBI 1000 Genomes Browser:
rs1057520739
Molecular consequence:
  • NM_000046.5:c.1325C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000517249GeneDxcriteria provided, single submitter
Pathogenic
(May 27, 2015)
germlineclinical testing

Citation Link,

SCV000706443Eurofins NTD LLC (GA)criteria provided, single submitter
Uncertain significance
(Feb 21, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000517249.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The T442M variant in the ARSB gene has been reported previously in the compound heterozygous statein an individual with mucopolysaccharidosis type VI (MPS VI) (Karageorgos et al., 2007). The T442Msubstitution was not observed in approximately 6500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The T442M variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. This substitutionoccurs at a position that is conserved across species. Missense variants in the same (T442R) and nearby(K439E, P445L, and G446R) residues have been reported in the Human Gene Mutation Database inassociation with MPS VI (Stenson et al., 2014), supporting the functional importance of this region of theprotein. We interpret T442M as a pathogenic variant.

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

From Eurofins NTD LLC (GA), SCV000706443.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022

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