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NM_000155.4(GALT):c.233C>T (p.Ala78Val) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001802740.7

Allele description [Variation Report for NM_000155.4(GALT):c.233C>T (p.Ala78Val)]

NM_000155.4(GALT):c.233C>T (p.Ala78Val)

Genes:
LOC130001683:ATAC-STARR-seq lymphoblastoid active region 28314 [Gene]
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.233C>T (p.Ala78Val)
HGVS:
  • NC_000009.12:g.34647239C>T
  • NG_009029.2:g.5651C>T
  • NG_028966.1:g.55C>T
  • NM_000155.4:c.233C>TMANE SELECT
  • NM_001258332.2:c.31C>T
  • NP_000146.2:p.Ala78Val
  • NP_001245261.1:p.Pro11Ser
  • NC_000009.11:g.34647236C>T
Protein change:
A78V
Links:
dbSNP: rs981018740
NCBI 1000 Genomes Browser:
rs981018740
Molecular consequence:
  • NM_000155.4:c.233C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.31C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Synonyms:
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002049864ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Uncertain significance
(Oct 24, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002049864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The GALT c.233C>T; p.Ala78Val variant (rs981018740), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 78 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.572). Due to limited information, the clinical significance of the p.Ala78Val variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023