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NM_000155.4(GALT):c.983G>A (p.Arg328His)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 28, 2020)
Last evaluated:
Nov 26, 2018
Accession:
VCV000025309.6
Variation ID:
25309
Description:
single nucleotide variant
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NM_000155.4(GALT):c.983G>A (p.Arg328His)

Allele ID
36643
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.3
Genomic location
9: 34649488 (GRCh38) GRCh38 UCSC
9: 34649485 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P07902:p.Arg328His
NC_000009.11:g.34649485G>A
NC_000009.12:g.34649488G>A
... more HGVS
Protein change
R219H
Other names
-
Canonical SPDI
NC_000009.12:34649487:G:A
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: CA259558
UniProtKB: P07902#VAR_002622
dbSNP: rs111033802
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 Nov 26, 2018 RCV000022254.5
Likely pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001271248.1
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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
445 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 26, 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: SCV000919406.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: GALT c.983G>A (p.Arg328His) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, C-terminal domain of the encoded protein sequence. … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Allele origin: germline
Baylor Genetics
Accession: SCV001163251.1
Submitted: (Sep 27, 2019)
Evidence details
Likely pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Galactosemia
Allele origin: germline
Natera, Inc.
Accession: SCV001452292.1
Submitted: (Dec 28, 2020)
Evidence details

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
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. Özgül RK Journal of human genetics 2013 PMID: 23924834
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia. Forges T Fertility and sterility 2011 PMID: 20663501
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach. Facchiano A Protein engineering, design & selection : PEDS 2010 PMID: 20008339
The molecular biology of galactosemia. Elsas LJ 2nd Genetics in medicine : official journal of the American College of Medical Genetics 1998 PMID: 11261429

Text-mined citations for rs111033802...

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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 20, 2021