NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000022264.5

Allele description [Variation Report for NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)]

NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)

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.1018G>T (p.Glu340Ter)

HGVS:

NC_000009.12:g.34649523G>T
NG_009029.2:g.7935G>T
NG_028966.1:g.2339G>T
NM_000155.4:c.1018G>TMANE SELECT
NM_001258332.2:c.691G>T
NP_000146.2:p.Glu340Ter
NP_001245261.1:p.Glu231Ter
NC_000009.11:g.34649520G>T
NM_000155.3:c.1018G>T

Protein change:

E231*

Links:

dbSNP: rs111033806

NCBI 1000 Genomes Browser:

rs111033806

Molecular consequence:

NM_000155.4:c.1018G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258332.2:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV001160733	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Jolly et al. (J Clin Endocrinol Metab. 2019))	Pathogenic (Apr 22, 2019)	inherited, unknown	research	PubMed (1) [See all records that cite this PMID]
SCV004171108	Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 28, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001160733

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Jolly et al. (J Clin Endocrinol Metab. 2019))

Pathogenic
(Apr 22, 2019)

inherited, unknown

research

PubMed (1)
[See all records that cite this PMID]

SCV004171108

Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 28, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	1	not provided	not provided	not provided	not provided	research
not provided	germline	no	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	no	2	not provided	not provided	not provided	not provided	research

Citations

PubMed

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, et al.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248.

PubMed [citation]

PMID:: 31042289
PMCID:: PMC6563799

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001160733.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)
2	not provided	2	not provided	not provided	research	PubMed (1)

Description

This variant was identified as homozygous in a female individual with galactosemia.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	unknown	no	not provided	not provided	not provided		2	not provided	not provided	not provided

From Intergen, Intergen Genetics and Rare Diseases Diagnosis Center, SCV004171108.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 2, 2023

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