NM_000155.4(GALT):c.820+13A>G AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 3, 2017
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:: RCV000723491.6

Allele description [Variation Report for NM_000155.4(GALT):c.820+13A>G]

NM_000155.4(GALT):c.820+13A>G

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.820+13A>G

HGVS:

NC_000009.12:g.34648907A>G
NG_009029.2:g.7319A>G
NG_028966.1:g.1723A>G
NM_000155.4:c.820+13A>GMANE SELECT
NM_001258332.2:c.493+13A>G
NC_000009.11:g.34648904A>G
NM_000155.3:c.820+13A>G

Links:

dbSNP: rs111033768

NCBI 1000 Genomes Browser:

rs111033768

Molecular consequence:

NM_000155.4:c.820+13A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001258332.2:c.493+13A>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000331164	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jul 3, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23749220, 25052314 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331164

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jul 3, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Coelho AI, Ramos R, Gaspar A, Costa C, Oliveira A, Diogo L, Garcia P, Paiva S, Martins E, Teles EL, Rodrigues E, Cardoso MT, Ferreira E, Sequeira S, Leite M, Silva MJ, de Almeida IT, Vicente JB, Rivera I.

J Inherit Metab Dis. 2014 Jan;37(1):43-52. doi: 10.1007/s10545-013-9623-1. Epub 2013 Jun 8.

PubMed [citation]

PMID:: 23749220

Functional correction by antisense therapy of a splicing mutation in the GALT gene.

Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Rivera I.

Eur J Hum Genet. 2015 Apr;23(4):500-6. doi: 10.1038/ejhg.2014.149. Epub 2014 Jul 23.

PubMed [citation]

PMID:: 25052314
PMCID:: PMC4666580

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331164.5

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

#	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		1	not provided	not provided	not provided

Last Updated: May 16, 2025

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