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NM_000155.4(GALT):c.1052del (p.Pro351fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 24, 2019)
Last evaluated:
Aug 27, 2018
Accession:
VCV000193559.4
Variation ID:
193559
Description:
1bp deletion
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NM_000155.4(GALT):c.1052del (p.Pro351fs)

Allele ID
190722
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34649554 (GRCh38) GRCh38 UCSC
9: 34649551 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.34649554del
NC_000009.12:g.34649557del
NG_009029.2:g.7969del
... more HGVS
Protein change
P242fs
Other names
-
Canonical SPDI
NC_000009.12:34649553:CCCC:CCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA259576
dbSNP: rs111033813
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 27, 2018 RCV000173648.7
Pathogenic 1 criteria provided, single submitter May 28, 2015 RCV000723535.1
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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
(May 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224783.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Dec 29, 2015)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: unknown
Counsyl
Accession: SCV000485509.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Aug 27, 2018)
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: SCV000919403.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: GALT c.1052delC (p.Pro351LeufsX8) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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
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 - - - -

Text-mined citations for rs111033813...

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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