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NM_001008216.2(GALE):c.1004G>A (p.Arg335His) AND GALE-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 3, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003420622.5

Allele description [Variation Report for NM_001008216.2(GALE):c.1004G>A (p.Arg335His)]

NM_001008216.2(GALE):c.1004G>A (p.Arg335His)

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.1004G>A (p.Arg335His)
HGVS:
  • NC_000001.11:g.23795992C>T
  • NG_007068.1:g.9813G>A
  • NM_000403.3:c.1004G>A
  • NM_000403.4:c.1004G>A
  • NM_001008216.2:c.1004G>AMANE SELECT
  • NM_001127621.2:c.1004G>A
  • NP_000394.2:p.Arg335His
  • NP_001008217.1:p.Arg335His
  • NP_001121093.1:p.Arg335His
  • NC_000001.10:g.24122482C>T
Protein change:
R335H
Molecular consequence:
  • NM_000403.4:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008216.2:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127621.2:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GALE-related disorder
Synonyms:
GALE-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004108072PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 3, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004108072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The GALE c.1004G>A variant is predicted to result in the amino acid substitution p.Arg335His. This variant has been reported in the compound heterozygous state in two individuals with galactosaemia epimerase deficiency (Park et al 2005. PubMed ID: 16301867; 2005. PubMed ID: 16302980). Arg335 is located on α-helix 10 on the protein surface (McCorvie et al. 2013. PubMed ID: 23644136). Functional studies showed that this variant causes mild defects in enzyme activity (Timson et al. 2005. PubMed ID: 16302980; Bang YL et al 2009. PubMed ID: 19250319). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-24122482-C-T). This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024