NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) AND not provided

Germline classification:: Conflicting classifications of pathogenicity; other (4 submissions)
Last evaluated:: Apr 1, 2025
Review status:: criteria provided, conflicting classifications

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:: RCV000592410.42

Allele description [Variation Report for NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)]

NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)

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.770A>G (p.Lys257Arg)

HGVS:

NC_000001.11:g.23796722T>C
NG_007068.1:g.9083A>G
NM_000403.4:c.770A>G
NM_001008216.2:c.770A>GMANE SELECT
NM_001127621.2:c.770A>G
NP_000394.2:p.Lys257Arg
NP_000394.2:p.Lys257Arg
NP_001008217.1:p.Lys257Arg
NP_001121093.1:p.Lys257Arg
NC_000001.10:g.24123212T>C
NM_000403.3:c.770A>G
NM_001127621.2:c.770A>G
Q14376:p.Lys257Arg

Protein change:

K257R; LYS257ARG

Links:

UniProtKB: Q14376#VAR_002544; OMIM: 606953.0005; dbSNP: rs28940884

Molecular consequence:

NM_000403.4:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001008216.2:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127621.2:c.770A>G - 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
SCV000700362	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	other (Jul 14, 2017)	germline	clinical testing	Citation Link,
SCV003799128	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]
SCV004700471	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Apr 1, 2025)	germline	clinical testing	Citation Link,
SCV005410423	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 27, 2025)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 11001796, 11903335, 15639193, 16301867, 16302980, 16385452, 16611573, 23644136, 33510604, 33555556, 9538513, 9973283, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	36	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular basis of disorders of human galactose metabolism: past, present, and future.

Novelli G, Reichardt JK.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. Review.

PubMed [citation]

PMID:: 11001796

A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.

Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL.

Clin Genet. 2001 Nov;60(5):350-5.

PubMed [citation]

PMID:: 11903335

See all PubMed Citations (13)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700362.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	34	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		34	not provided	not provided	not provided

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV003799128.2

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

Description

PS3_Supporting, BA1

#	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 CeGaT Center for Human Genetics Tuebingen, SCV004700471.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

Description

GALE: BS1, BS2

#	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		3	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005410423.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (13)

Description

BS1

#	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: Jul 14, 2026

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