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NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 13, 2021)
Last evaluated:
Jun 30, 2021
Accession:
VCV000459627.6
Variation ID:
459627
Description:
3bp inversion
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NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)

Allele ID
459536
Variant type
Inversion
Variant length
3 bp
Cytogenetic location
9p13.3
Genomic location
9: 34648864-34648866 (GRCh38) GRCh38 UCSC
9: 34648861-34648863 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.34648861_34648863inv
NC_000009.12:g.34648864_34648866inv
NG_009029.2:g.7276_7278inv
... more HGVS
Protein change
L264*, L155*
Other names
-
Canonical SPDI
NC_000009.12:34648863:CTA:TAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA353731
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 19, 2020 RCV000555777.6
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 30, 2021 RCV000723483.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALT - - GRCh38
GRCh37
445 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Invitae
Accession: SCV000631391.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change deletes 3 nucleotide and inserts 3 nucleotides in exon 8 of the GALT mRNA (c.790_792invCTA), creating a premature translational stop signal (p.Leu264*) … (more)
Pathogenic
(Apr 19, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110074.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Dec 19, 2020)
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: SCV000695704.2
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: GALT c.790_792delinsTAG (p.Leu264X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Jun 30, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001783165.1
Submitted: (Aug 13, 2021)
Evidence details
Comment:
Observed in apparent homozygous state in a patient with a confirmed diagnosis of classic galactosemia (Elsas et al., 1998); Not observed in large population cohorts … (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
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Demirbas D Molecular genetics and metabolism 2019 PMID: 30718057
Molecular analysis in newborns from Texas affected with galactosemia. Yang YP Human mutation 2002 PMID: 11754113
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Tyfield L Human mutation 1999 PMID: 10408771
The molecular biology of galactosemia. Elsas LJ 2nd Genetics in medicine : official journal of the American College of Medical Genetics 1998 PMID: 11261429
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GALT - - - -

Record last updated Nov 20, 2021