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NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000025125.5
Variation ID:
25125
Description:
single nucleotide variant
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NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)

Allele ID
36459
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34647106 (GRCh38) GRCh38 UCSC
9: 34647103 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.34647103T>A
P07902:p.Tyr34Asn
NC_000009.12:g.34647106T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:34647105:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA259324
UniProtKB: P07902#VAR_068535
dbSNP: rs111033836
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 18, 2016 RCV000726020.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations May 28, 2019 RCV000022052.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALT - - GRCh38
GRCh37
447 522

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 18, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000341275.4
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/emvc…
http://arup.utah.edu/database/GA…
Uncertain significance
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: unknown
Counsyl
Accession: SCV000798041.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Oct 23, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Invitae
Accession: SCV000938537.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces tyrosine with asparagine at codon 34 of the GALT protein (p.Tyr34Asn). The tyrosine residue is highly conserved and there is a … (more)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: unknown
Mendelics
Accession: SCV001137801.1
Submitted: (Oct 22, 2019)
Evidence details

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
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. Viggiano E Gene 2015 PMID: 25592817
Modifiers of ovarian function in girls and women with classic galactosemia. Spencer JB The Journal of clinical endocrinology and metabolism 2013 PMID: 23690308
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. Tang M Human mutation 2012 PMID: 22461411
http://arup.utah.edu/database/GALT/GALT_display.php - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GALT - - - -

Text-mined citations for rs111033836...

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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 Nov 27, 2021