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NM_000046.5(ARSB):c.900T>G (p.Asp300Glu) AND Mucopolysaccharidosis type 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2018
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:
RCV000677603.1

Allele description [Variation Report for NM_000046.5(ARSB):c.900T>G (p.Asp300Glu)]

NM_000046.5(ARSB):c.900T>G (p.Asp300Glu)

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.900T>G (p.Asp300Glu)
HGVS:
  • NC_000005.10:g.78885826A>C
  • NG_007089.1:g.105709T>G
  • NM_000046.5:c.900T>GMANE SELECT
  • NM_198709.3:c.900T>G
  • NP_000037.2:p.Asp300Glu
  • NP_942002.1:p.Asp300Glu
  • NC_000005.9:g.78181649A>C
  • NM_000046.4:c.900T>G
Protein change:
D300E
Links:
dbSNP: rs1280123243
NCBI 1000 Genomes Browser:
rs1280123243
Molecular consequence:
  • NM_000046.5:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.900T>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803120Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2018) 		germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Giraldo GA, Ayala-Ramírez P, Prieto JC, García-Robles R, Acosta JC.

Meta Gene. 2016 Feb;7:83-9. doi: 10.1016/j.mgene.2015.12.004.

PubMed [citation]
PMID:
26909334
PMCID:
PMC4733218

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
See all PubMed Citations (3)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova, SCV000803120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

Located in a well-established functional domain (PM1); 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: Aug 5, 2023