NM_000155.4(GALT):c.619C>T (p.Gln207Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 9, 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:: RCV000723401.5

Allele description [Variation Report for NM_000155.4(GALT):c.619C>T (p.Gln207Ter)]

NM_000155.4(GALT):c.619C>T (p.Gln207Ter)

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.619C>T (p.Gln207Ter)

Other names:

p.Gln207*

HGVS:

NC_000009.12:g.34648388C>T
NG_009029.2:g.6800C>T
NG_028966.1:g.1204C>T
NM_000155.4:c.619C>TMANE SELECT
NM_001258332.2:c.292C>T
NP_000146.2:p.Gln207Ter
NP_001245261.1:p.Gln98Ter
NC_000009.11:g.34648385C>T
NM_000155.2:c.619C>T
NM_000155.3:c.619C>T

Protein change:

Q207*

Links:

dbSNP: rs111033743

NCBI 1000 Genomes Browser:

rs111033743

Molecular consequence:

NM_000155.4:c.619C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258332.2:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000700295	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Oct 4, 2016)	germline	clinical testing	Citation Link,
SCV004226593	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 9, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11754113, 19224951, 25741868 doi:10.35366/102778.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000700295

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Oct 4, 2016)

germline

clinical testing

Citation Link,

SCV004226593

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 9, 2023)

germline

clinical testing

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

doi:10.35366/102778.

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

Molecular analysis in newborns from Texas affected with galactosemia.

Yang YP, Corley N, Garcia-Heras J.

Hum Mutat. 2002 Jan;19(1):82-3.

PubMed [citation]

PMID:: 11754113

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 Eurofins Ntd Llc (ga), SCV000700295.2

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226593.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (3)

Description

PP4, PM2, PVS1

#	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

Last Updated: Sep 29, 2024

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