NM_000155.4(GALT):c.292G>C (p.Asp98His) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 11, 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:: RCV000790788.14

Allele description [Variation Report for NM_000155.4(GALT):c.292G>C (p.Asp98His)]

NM_000155.4(GALT):c.292G>C (p.Asp98His)

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.292G>C (p.Asp98His)

HGVS:

NC_000009.12:g.34647531G>C
NG_009029.2:g.5943G>C
NG_028966.1:g.347G>C
NM_000155.4:c.292G>CMANE SELECT
NM_001258332.2:c.50+273G>C
NP_000146.2:p.Asp98His
NP_000146.2:p.Asp98His
NC_000009.11:g.34647528G>C
NM_000155.2:c.292G>C
NM_000155.3:c.292G>C

Links:

dbSNP: rs111033670

NCBI 1000 Genomes Browser:

rs111033670

Molecular consequence:

NM_001258332.2:c.50+273G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000155.4:c.292G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000330952	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Nov 25, 2015)	germline	clinical testing	Citation Link,
SCV005413870	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 11, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 14728988, 20008339, 27005423, 31395954, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330952

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Nov 25, 2015)

germline

clinical testing

Citation Link,

SCV005413870

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 11, 2023)

germline

clinical testing

PubMed (5)
[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	6	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.

Berry GT, Moate PJ, Reynolds RA, Yager CT, Ning C, Boston RC, Segal S.

Mol Genet Metab. 2004 Jan;81(1):22-30.

PubMed [citation]

PMID:: 14728988

Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.

Facchiano A, Marabotti A.

Protein Eng Des Sel. 2010 Feb;23(2):103-13. doi: 10.1093/protein/gzp076. Epub 2009 Dec 11.

PubMed [citation]

PMID:: 20008339

See all PubMed Citations (5)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000330952.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

#	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		4	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413870.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (5)

Description

PP3, PM2_moderate, PM3, PM5, PS3

#	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		2	not provided	not provided	not provided

Last Updated: May 3, 2025

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