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NM_000155.4(GALT):c.290A>G (p.Asn97Ser)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 6, 2020)
Last evaluated:
Sep 6, 2019
Accession:
VCV000025146.5
Variation ID:
25146
Description:
single nucleotide variant
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NM_000155.4(GALT):c.290A>G (p.Asn97Ser)

Allele ID
36480
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34647529 (GRCh38) GRCh38 UCSC
9: 34647526 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P07902:p.Asn97Ser
NC_000009.11:g.34647526A>G
NC_000009.12:g.34647529A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:34647528:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA259355
UniProtKB: P07902#VAR_002559
dbSNP: rs111033669
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 6, 2019 RCV000022077.9
Pathogenic 1 criteria provided, single submitter Jan 17, 2013 RCV000723577.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jan 17, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110055.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Sep 24, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Invitae
Accession: SCV000934199.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces asparagine with serine at codon 97 of the GALT protein (p.Asn97Ser). The asparagine residue is highly conserved and there is a … (more)
Pathogenic
(Sep 06, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363672.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (7)
Comment:
Variant summary: GALT c.290A>G (p.Asn97Ser, legacy name c.318A>G) results in a conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, N-terminal domain (IPR005849) of … (more)

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
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Boutron A Molecular genetics and metabolism 2012 PMID: 22944367
The adult galactosemic phenotype. Waisbren SE Journal of inherited metabolic disease 2012 PMID: 21779791
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. Li Y Clinical chemistry 2010 PMID: 20348403
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach. Facchiano A Protein engineering, design & selection : PEDS 2010 PMID: 20008339
Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations. Shin YS Bratislavske lekarske listy 2004 PMID: 15633893
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients. Hirokawa H European journal of human genetics : EJHG 1999 PMID: 10573007
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Tyfield L Human mutation 1999 PMID: 10408771
Molecular characterization of galactosemia (type 1) mutations in Japanese. Ashino J Human mutation 1995 PMID: 7550229
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GALT - - - -

Text-mined citations for rs111033669...

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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 Dec 04, 2021