Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000155.4(GALT):c.855G>T (p.Lys285Asn)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 31, 2018
Accession:
VCV000003621.2
Variation ID:
3621
Description:
single nucleotide variant
Help

NM_000155.4(GALT):c.855G>T (p.Lys285Asn)

Allele ID
18660
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34649032 (GRCh38) GRCh38 UCSC
9: 34649029 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P07902:p.Lys285Asn
NC_000009.11:g.34649029G>T
NC_000009.12:g.34649032G>T
... more HGVS
Protein change
K285N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00014
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Links
ClinGen: CA340107
UniProtKB: P07902#VAR_002609
OMIM: 606999.0013
dbSNP: rs111033773
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 7 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000003805.11
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 12, 2018 RCV000224446.2
Pathogenic 1 criteria provided, single submitter Feb 14, 2017 RCV000508238.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALT - - GRCh38
GRCh37
424 493

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 14, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281425.1
Submitted: (May 19, 2016)
Evidence details
Pathogenic
(Feb 14, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603795.1
Submitted: (Jun 30, 2017)
Evidence details
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894465.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Invitae
Accession: SCV000813007.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces lysine with asparagine at codon 285 of the GALT protein (p.Lys285Asn). The lysine residue is highly conserved and there is a ... (more)
pathogenic
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
Galactosemia
(autosomal recessive)
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000052475.1
Submitted: (Aug 18, 2011)
Evidence details
Publications
PubMed (2)
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Jun 06, 2015)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: unknown
Counsyl
Accession: SCV000678171.1
Submitted: (Jun 22, 2017)
Evidence details
Publications
PubMed (6)
Pathogenic
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000110077.8
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Jan 01, 1997)
no assertion criteria provided
Method: literature only
GALACTOSEMIA
Allele origin: germline
OMIM
Accession: SCV000023970.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 04, 2012)
no assertion criteria provided
Method: clinical testing
Classic Galactosemia
Allele origin: not provided
Research and Development, ARUP Laboratories
Accession: SCV000042903.1
Submitted: (Dec 18, 2012)
Comment:
Caucasian male with abnormal NBS, high GAL-1-P, abnormal liver function and coagulation factors, and absent GALTenzyme activity was heterozygous for this mutation and p.A320V.
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Apr 03, 2014)
no assertion criteria provided
Method: literature only
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
GeneReviews
Accession: SCV000147999.2
Submitted: (Apr 04, 2014)
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Classic Galactosemia and Clinical Variant Galactosemia Berry GT - 2017 PMID: 20301691
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
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
Functional and structural impact of the most prevalent missense mutations in classic galactosemia. Coelho AI Molecular genetics & genomic medicine 2014 PMID: 25614870
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach. Facchiano A Protein engineering, design & selection : PEDS 2010 PMID: 20008339
An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families. Gort L Medicina clinica 2009 PMID: 19375122
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family. Chhay JS Journal of inherited metabolic disease 2008 PMID: 18210213
Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene. Jama M The Journal of molecular diagnostics : JMD 2007 PMID: 17884932
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. Calderon FR Journal of inherited metabolic disease 2007 PMID: 17876724
Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population. Lukac-Bajalo J Clinical biochemistry 2007 PMID: 17303100
Prevention of a molecular misdiagnosis in galactosemia. Barbouth D Genetics in medicine : official journal of the American College of Medical Genetics 2006 PMID: 16540753
Molecular analysis in newborns from Texas affected with galactosemia. Yang YP Human mutation 2002 PMID: 11754113
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. Riehman K The Journal of biological chemistry 2001 PMID: 11152465
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. Berry GT Pediatric research 2000 PMID: 10960497
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). Kozák L Human mutation 2000 PMID: 10649501
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Tyfield L Human mutation 1999 PMID: 10408771
Molecular characterization of Polish patients with classical galactosaemia. Zekanowski C Journal of inherited metabolic disease 1999 PMID: 10399107
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Greber-Platzer S Human mutation 1997 PMID: 9222760
A common mutation associated with the Duarte galactosemia allele. Elsas LJ American journal of human genetics 1994 PMID: 8198125
The human galactose-1-phosphate uridyltransferase gene. Leslie ND Genomics 1992 PMID: 1427861
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GALT - - - -

Record last updated Nov 10, 2019