NM_000155.4(GALT):c.793C>G (p.Pro265Ala) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 31, 2021
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:: RCV000022206.8

Allele description [Variation Report for NM_000155.4(GALT):c.793C>G (p.Pro265Ala)]

NM_000155.4(GALT):c.793C>G (p.Pro265Ala)

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.793C>G (p.Pro265Ala)

HGVS:

NC_000009.12:g.34648867C>G
NG_009029.2:g.7279C>G
NG_028966.1:g.1683C>G
NM_000155.4:c.793C>GMANE SELECT
NM_001258332.2:c.466C>G
NP_000146.2:p.Pro265Ala
NP_001245261.1:p.Pro156Ala
NC_000009.11:g.34648864C>G
NM_000155.3:c.793C>G
P07902:p.Pro265Ala

Protein change:

P156A

Links:

UniProtKB: P07902#VAR_068549; dbSNP: rs111033764

NCBI 1000 Genomes Browser:

rs111033764

Molecular consequence:

NM_000155.4:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258332.2:c.466C>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000825910	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 31, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17041746, 19224951, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000825910

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 31, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum of classical galactosaemia in Spain and Portugal.

Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Girós M, Briones P.

J Inherit Metab Dis. 2006 Dec;29(6):739-42. Epub 2006 Oct 14.

PubMed [citation]

PMID:: 17041746

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL.

Hum Mol Genet. 2009 May 1;18(9):1624-32. doi: 10.1093/hmg/ddp080. Epub 2009 Feb 18.

PubMed [citation]

PMID:: 19224951
PMCID:: PMC2667289

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000825910.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 265 of the GALT protein (p.Pro265Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with galactosemia, being proven to be in cis in one of them (PMID: 17041746, 19224951). ClinVar contains an entry for this variant (Variation ID: 25265). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALT protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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