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NM_024312.5(GNPTAB):c.3435-1G>A

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 30, 2013)
Last evaluated:
May 10, 2012
Accession:
VCV000038427.2
Variation ID:
38427
Description:
single nucleotide variant
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NM_024312.5(GNPTAB):c.3435-1G>A

Allele ID
46986
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q23.2
Genomic location
12: 101753540 (GRCh38) GRCh38 UCSC
12: 102147318 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.102147318C>T
NC_000012.12:g.101753540C>T
NG_021243.1:g.82328G>A
NM_024312.5:c.3435-1G>A MANE Select splice acceptor
Protein change
-
Other names
AY687932:c.3435-1G>A
Canonical SPDI
NC_000012.12:101753539:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA343079
dbSNP: rs281865037
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 10, 2012 RCV000031984.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GNPTAB - - GRCh38
GRCh37
645 726

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathologic
(May 10, 2012)
no assertion criteria provided
Method: curation
Mucolipidosis III Alpha/Beta
Allele origin: not provided
GeneReviews
Accession: SCV000054682.2
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Mucolipidosis III Alpha/Beta – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY Leroy JG - 2012 PMID: 20301730
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Kudo M American journal of human genetics 2006 PMID: 16465621

Text-mined citations for rs281865037...

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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 29, 2021