NM_000155.4(GALT):c.443G>A (p.Arg148Gln) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 8, 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:: RCV000723398.8

Allele description [Variation Report for NM_000155.4(GALT):c.443G>A (p.Arg148Gln)]

NM_000155.4(GALT):c.443G>A (p.Arg148Gln)

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.443G>A (p.Arg148Gln)

HGVS:

NC_000009.12:g.34647897G>A
NG_009029.2:g.6309G>A
NG_028966.1:g.713G>A
NM_000155.4:c.443G>AMANE SELECT
NM_001258332.2:c.116G>A
NP_000146.2:p.Arg148Gln
NP_001245261.1:p.Arg39Gln
NC_000009.11:g.34647894G>A
NM_000155.2:c.443G>A
NM_000155.3:c.443G>A
P07902:p.Arg148Gln

Protein change:

R39Q

Links:

UniProtKB: P07902#VAR_002578; dbSNP: rs111033694

NCBI 1000 Genomes Browser:

rs111033694

Molecular consequence:

NM_000155.4:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258332.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000230859	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (May 27, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001822996	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 21, 2019)	germline	clinical testing	Citation Link,
SCV005413875	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 8, 2023)	germline	clinical testing	PubMed (15) [See all records that cite these PMIDs] 10408771, 11397328, 15841485, 17041746, 20008339, 22944367, 23749220, 25614870, 31589614, 31845337, 31980526, 32954279, 34440436, 7887416, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000230859

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(May 27, 2014)

germline

clinical testing

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

Citation Link,

SCV001822996

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 21, 2019)

germline

clinical testing

Citation Link,

SCV005413875

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 8, 2023)

germline

clinical testing

PubMed (15)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD.

Hum Mutat. 1999;13(6):417-30. Review.

PubMed [citation]

PMID:: 10408771

Outcomes analysis of verbal dyspraxia in classic galactosemia.

Robertson A, Singh RH, Guerrero NV, Hundley M, Elsas LJ.

Genet Med. 2000 Mar-Apr;2(2):142-8.

PubMed [citation]

PMID:: 11397328

See all PubMed Citations (15)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230859.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV001822996.1

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

Description

Expression studies found that the R148Q variant was associated with GALT enzyme activity below the limits of detection (Coelho et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 31980526, 7887416, 25614870, 25525159, 20008339)

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413875.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (15)

Description

PP4, 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		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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