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NM_000046.5(ARSB):c.427del (p.Val143fs) AND Metachromatic leukodystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000779748.1

Allele description [Variation Report for NM_000046.5(ARSB):c.427del (p.Val143fs)]

NM_000046.5(ARSB):c.427del (p.Val143fs)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.427del (p.Val143fs)
HGVS:
  • NC_000005.10:g.78969079del
  • NG_007089.1:g.22457del
  • NM_000046.5:c.427delMANE SELECT
  • NM_198709.3:c.427del
  • NP_000037.2:p.Val143fs
  • NP_942002.1:p.Val143fs
  • NC_000005.10:g.78969078_78969078delC
  • NC_000005.9:g.78264901del
  • NC_000005.9:g.78264902del
  • NM_000046.3:c.427delG
  • NM_000046.4:c.427del
  • NM_000046.5:c.427delGMANE SELECT
Protein change:
V143fs
Links:
dbSNP: rs766914147
NCBI 1000 Genomes Browser:
rs766914147
Molecular consequence:
  • NM_000046.5:c.427del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.427del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916523Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Dec 4, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

Petry MF, Nonemacher K, Sebben JC, Schwartz IV, Azevedo AC, Burin MG, de Rezende AR, Kim CA, Giugliani R, Leistner-Segal S.

J Inherit Metab Dis. 2005;28(6):1027-34.

PubMed [citation]
PMID:
16435196

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, SCV000916523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The ARSB c.427delG (p.Val143SerfsX41) variant results in a premature termination codon, predicted to cause a truncated or absent ARSB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 6/277178 control chromosomes at a frequency of 0.0000216, which does not exceed the estimated maximal expected allele frequency of a pathogenic ARSB variant (0.0022361). The variant has been reported in numerous affected individuals in the literature. Taken together, this variant is classified as pathogenic.

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

Last Updated: Jun 17, 2024