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NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2021
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:
RCV001582494.2

Allele description [Variation Report for NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)]

NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)

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.1018G>A (p.Glu340Lys)
HGVS:
  • NC_000009.12:g.34649523G>A
  • NG_009029.2:g.7935G>A
  • NG_028966.1:g.2339G>A
  • NM_000155.4:c.1018G>AMANE SELECT
  • NM_001258332.2:c.691G>A
  • NP_000146.2:p.Glu340Lys
  • NP_001245261.1:p.Glu231Lys
  • NC_000009.11:g.34649520G>A
  • NM_000155.3:c.1018G>A
Protein change:
E231K
Links:
dbSNP: rs111033806
NCBI 1000 Genomes Browser:
rs111033806
Molecular consequence:
  • NM_000155.4:c.1018G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001821392Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Aug 26, 2021)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

Kozák L, Francová H, Fajkusová L, Pijácková A, Macku J, Stastná S, Peskovová K, Martincová O, Krijt J, Bzdúch V.

Hum Mutat. 2000 Feb;15(2):206.

PubMed [citation]
PMID:
10649501

Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Milánkovics I, Schuler A, Kámory E, Csókay B, Fodor F, Somogyi C, Németh K, Fekete G.

Wien Klin Wochenschr. 2010 Feb;122(3-4):95-102. doi: 10.1007/s00508-010-1311-7.

PubMed [citation]
PMID:
20213376
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001821392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Variant summary: GALT c.1018G>A (p.Glu340Lys) results in a conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, C-terminal domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251462 control chromosomes. c.1018G>A has been reported in the literature in individuals affected with Galactosemia in the homozygous and compound heterozygous state with the Duarte allele in cis (Kozak_2000, Milankovics_2010), the compound heterozygous without reporting the of presence of Duarte allele (Siripunthana_2013) and in the heterozygous state without a reported second allele and unknown Duarte allele status (Welling_2017). The penetrance of the variant in isolation is unknown. Additionally, to our knowledge, no experimental studies have been performed on this variant in isolation. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Sep 29, 2024