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NM_000512.5(GALNS):c.898+1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 28, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000224783.5
Variation ID:
224783
Description:
single nucleotide variant
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NM_000512.5(GALNS):c.898+1G>C

Allele ID
226602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 88835212 (GRCh38) GRCh38 UCSC
16: 88901620 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.88835212C>G
NC_000016.9:g.88901620C>G
NG_008667.1:g.26755G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:88835211:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA357205
dbSNP: rs761850746
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Feb 1, 2021 RCV000210353.4
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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
Likely 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: SCV001547827.2
Submitted: (Feb 22, 2021)
Evidence details
Publications
PubMed (2)
Comment:
Splicing variant in canonical site (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate)
Pathogenic
(Jun 14, 2021)
no assertion criteria provided
Method: literature only
Mucopolysaccharidosis, MPS-IV-A
Allele origin: germline
GeneReviews
Accession: SCV000266396.2
Submitted: (Jul 28, 2021)
Evidence details
Publications
PubMed (2)
BookShelf: NBK148668

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
Mucopolysaccharidosis Type IVA Regier DS - 2021 PMID: 23844448
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Tomatsu S Human mutation 2005 PMID: 16287098
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. Tomatsu S Journal of medical genetics 2004 PMID: 15235041

Text-mined citations for rs761850746...

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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