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

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 22, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000000711.5
Variation ID:
711
Description:
single nucleotide variant
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NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)

Allele ID
15750
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 88835794 (GRCh38) GRCh38 UCSC
16: 88902202 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.88835794C>T
NC_000016.9:g.88902202C>T
NG_008667.1:g.26173G>A
... more HGVS
Protein change
W230*, W45*, W236*
Other names
-
Canonical SPDI
NC_000016.10:88835793:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA251573
OMIM: 612222.0016
dbSNP: rs118204449
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Feb 1, 2021 RCV000000746.6
Pathogenic 1 criteria provided, single submitter Mar 18, 2019 RCV001193132.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALNS - - GRCh38
GRCh37
670 812

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 18, 2019)
criteria provided, single submitter
Method: clinical testing
Morquio syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361769.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
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 … (more)
Pathogenic
(Feb 01, 2021)
criteria provided, single submitter
Method: curation
Mucopolysaccharidosis, MPS-IV-A
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV001547769.2
Submitted: (Feb 22, 2021)
Evidence details
Publications
PubMed (3)
Comment:
Nonsense variant (PVS1_very strong); in vitro and in vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity … (more)
Pathogenic
(Jul 01, 2003)
no assertion criteria provided
Method: literature only
MUCOPOLYSACCHARIDOSIS, TYPE IVA
Allele origin: germline
OMIM
Accession: SCV000020896.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Bidchol AM American journal of medical genetics. Part A 2014 PMID: 25252036
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Tomatsu S Human mutation 2005 PMID: 16287098
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. Montaño AM Human genetics 2003 PMID: 12721840

Text-mined citations for rs118204449...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 07, 2021