NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) AND not provided

Germline classification:: Uncertain significance; other (4 submissions)
Last evaluated:: Jun 21, 2024
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:: RCV000078697.26

Allele description [Variation Report for NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)]

NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)

Gene:

GALE:UDP-galactose-4-epimerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)

HGVS:

NC_000001.11:g.23796183C>T
NG_007068.1:g.9622G>A
NM_000403.4:c.956G>A
NM_001008216.2:c.956G>AMANE SELECT
NM_001127621.2:c.956G>A
NP_000394.2:p.Gly319Glu
NP_000394.2:p.Gly319Glu
NP_001008217.1:p.Gly319Glu
NP_001121093.1:p.Gly319Glu
NC_000001.10:g.24122673C>T
NM_000403.3:c.956G>A
Q14376:p.Gly319Glu

Protein change:

G319E; GLY319GLU

Links:

UniProtKB: Q14376#VAR_002546; OMIM: 606953.0007; dbSNP: rs28940885

NCBI 1000 Genomes Browser:

rs28940885

Molecular consequence:

NM_000403.4:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001008216.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127621.2:c.956G>A - 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
SCV000110557	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	other (Jun 7, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15639193, 16302980, 9538513 Citation Link,
SCV001468004	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005410412	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 26, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 15639193, 16302980, 16385452, 19250319, 9538513, 25741868
SCV005439257	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 21, 2024)	germline	clinical testing	Citation Link

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	16	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.

Wasilenko J, Lucas ME, Thoden JB, Holden HM, Fridovich-Keil JL.

Mol Genet Metab. 2005 Jan;84(1):32-8.

PubMed [citation]

PMID:: 15639193

Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.

Timson DJ.

FEBS J. 2005 Dec;272(23):6170-7.

PubMed [citation]

PMID:: 16302980

See all PubMed Citations (6)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110557.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	15	not provided	not provided	clinical testing	PubMed (3)

#	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		15	not provided	not provided	not provided

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV001468004.2

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

Description

PS3, BS2

Description

PS3_Supporting, BA1, PP3

#	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, SCV005410412.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

BS1, BS3, PP3, PP4

#	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

From GeneDx, SCV005439257.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16302980, 18188677, 30409984, 15639193, 22995991, 9538513, 23644136, 16385452)

#	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

Last Updated: Jan 13, 2025

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