NM_000155.4(GALT):c.1014C>G (p.Gly338=) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Sep 2, 2022
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:: RCV000790690.7

Allele description [Variation Report for NM_000155.4(GALT):c.1014C>G (p.Gly338=)]

NM_000155.4(GALT):c.1014C>G (p.Gly338=)

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.1014C>G (p.Gly338=)

Other names:

p.Gly338=

HGVS:

NC_000009.12:g.34649519C>G
NG_009029.2:g.7931C>G
NG_028966.1:g.2335C>G
NM_000155.4:c.1014C>GMANE SELECT
NM_001258332.2:c.687C>G
NP_000146.2:p.Gly338=
NP_001245261.1:p.Gly229=
NC_000009.11:g.34649516C>G
NG_009029.1:g.7882C>G
NM_000155.3:c.1014C>G
NP_000146.2:p.(=)

Links:

dbSNP: rs111033811

NCBI 1000 Genomes Browser:

rs111033811

Molecular consequence:

NM_000155.4:c.1014C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258332.2:c.687C>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000331181	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Likely pathogenic (Sep 18, 2015)	germline	clinical testing	Citation Link,
SCV004226605	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 2, 2022)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 11261429, 22944367, 25622686, 27308838, 30172461, 31194895, 32072977, 34030713, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331181

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Likely pathogenic
(Sep 18, 2015)

germline

clinical testing

Citation Link,

SCV004226605

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 2, 2022)

germline

clinical testing

PubMed (9)
[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	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

Genet Med. 1998 Nov-Dec;1(1):40-8. Review.

PubMed [citation]

PMID:: 11261429

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.

Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.

PubMed [citation]

PMID:: 22944367

See all PubMed Citations (9)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331181.5

#	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, SCV004226605.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (9)

Description

PP4, PM2, PM3_strong, PS3, PS4

#	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: Apr 13, 2025

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