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NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2022
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:
RCV002307717.2

Allele description [Variation Report for NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)]

NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)

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.151C>T (p.Arg51Trp)
HGVS:
  • NC_000001.11:g.23798701G>A
  • NG_007068.1:g.7104C>T
  • NM_000403.4:c.151C>T
  • NM_001008216.2:c.151C>TMANE SELECT
  • NM_001127621.2:c.151C>T
  • NP_000394.2:p.Arg51Trp
  • NP_001008217.1:p.Arg51Trp
  • NP_001121093.1:p.Arg51Trp
  • NC_000001.10:g.24125191G>A
  • NM_000403.3:c.151C>T
  • NM_001127621.2:c.151C>T
Protein change:
R51W; ARG51TRP
Links:
OMIM: 606953.0009; dbSNP: rs780517804
NCBI 1000 Genomes Browser:
rs780517804
Molecular consequence:
  • NM_000403.4:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008216.2:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127621.2:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002601325GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 17, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002601325.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed as homozygous and segregating in a family with multiple individuals with severe thrombocytopenia, mild anemia, and febrile neutropenia in in the published literature (Seo et al., 2019) and as homozygous in a patient with thrombocytopenia, leukopenia, and immunodeficiency previously tested at GeneDx; Observed as in trans with a second GALE variant in a patient with pancytopenia, congenital heart defects, bone marrow dysfunction, and GALE deficiency without classic features of galactosemia in published literature (Febres-Aldana et al., 2020); Published functional studies demonstrate a damaging effect with reduced enzyme activity and thermal instability (Seo et al., 2019); This variant is associated with the following publications: (PMID: 32350996, 30247636, 33510604)

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

Last Updated: Aug 4, 2024