NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) AND Morquio syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001193132.1

Allele description [Variation Report for NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)]

NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)

Gene:
GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
HGVS:
  • NC_000016.10:g.88835794C>T
  • NG_008667.1:g.26173G>A
  • NM_000512.5:c.689G>AMANE SELECT
  • NM_001323543.2:c.134G>A
  • NM_001323544.2:c.707G>A
  • NP_000503.1:p.Trp230Ter
  • NP_001310472.1:p.Trp45Ter
  • NP_001310473.1:p.Trp236Ter
  • NC_000016.9:g.88902202C>T
  • NM_000512.4:c.689G>A
Protein change:
W230*; TRP230TER
Links:
OMIM: 612222.0016; dbSNP: rs118204449
NCBI 1000 Genomes Browser:
rs118204449
Molecular consequence:
  • NM_000512.5:c.689G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323543.2:c.134G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323544.2:c.707G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Morquio syndrome
Synonyms:
Mucopolysaccharidosis, Type IV; MPS IV; Mucopolysaccharidosis type 4
Identifiers:
MONDO: MONDO:0018938; MedGen: C0026707; Orphanet: 582

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001361769Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Pathogenic
(Mar 18, 2019)
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

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

MontaƱo AM, Kaitila I, Sukegawa K, Tomatsu S, Kato Z, Nakamura H, Fukuda S, Orii T, Kondo N.

Hum Genet. 2003 Jul;113(2):162-9. Epub 2003 Apr 30.

PubMed [citation]
PMID:
12721840

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361769.1

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

Description

Variant summary: GALNS c.689G>A (p.Trp230X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246200 control chromosomes (gnomAD). c.689G>A has been reported in the literature in two siblings affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A)(Montano_2003). These data indicate that the variant may be associated with disease. A functional study, Montano_2003, showed the variant to have no detectable activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Sep 6, 2021

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