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NM_000155.4(GALT):c.947G>A (p.Trp316Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 31, 2020
Accession:
VCV000025291.6
Variation ID:
25291
Description:
single nucleotide variant
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NM_000155.4(GALT):c.947G>A (p.Trp316Ter)

Allele ID
36625
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34649452 (GRCh38) GRCh38 UCSC
9: 34649449 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.34649449G>A
NC_000009.12:g.34649452G>A
NG_009029.2:g.7864G>A
... more HGVS
Protein change
W316*, W207*
Other names
-
Canonical SPDI
NC_000009.12:34649451:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA259533
dbSNP: rs111033790
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 4 criteria provided, multiple submitters, no conflicts Jan 31, 2020 RCV000022235.10
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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
Likely pathogenic
(May 22, 2014)
criteria provided, single submitter
Method: literature only
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220344.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (3)
pathogenic
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
Galactosemia
(autosomal recessive)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052479.1
Submitted: (Aug 18, 2011)
Evidence details
Publications
PubMed (2)
Comment:
Converted during submission to Pathogenic.
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Baylor Genetics
Accession: SCV001163249.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Jan 31, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Invitae
Accession: SCV001222117.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Trp316*) in the GALT gene. It is expected to result in an absent or disrupted protein … (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
Identification of novel mutations in classical galactosemia. Bosch AM Human mutation 2005 PMID: 15841485
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Tyfield L Human mutation 1999 PMID: 10408771
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase. Shin YS Journal of inherited metabolic disease 1999 PMID: 10384398
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia. Schuster V Journal of molecular medicine (Berlin, Germany) 1998 PMID: 9766850
Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells. Shin YS Journal of inherited metabolic disease 1998 PMID: 9686364
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. Podskarbi T Journal of inherited metabolic disease 1996 PMID: 8892021
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. Sommer M Journal of inherited metabolic disease 1995 PMID: 8598637

Text-mined citations for rs111033790...

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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