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NM_000155.4(GALT):c.793C>G (p.Pro265Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 30, 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:
RCV001255517.4

Allele description [Variation Report for NM_000155.4(GALT):c.793C>G (p.Pro265Ala)]

NM_000155.4(GALT):c.793C>G (p.Pro265Ala)

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.793C>G (p.Pro265Ala)
HGVS:
  • NC_000009.12:g.34648867C>G
  • NG_009029.2:g.7279C>G
  • NG_028966.1:g.1683C>G
  • NM_000155.4:c.793C>GMANE SELECT
  • NM_001258332.2:c.466C>G
  • NP_000146.2:p.Pro265Ala
  • NP_001245261.1:p.Pro156Ala
  • NC_000009.11:g.34648864C>G
  • NM_000155.3:c.793C>G
  • P07902:p.Pro265Ala
Protein change:
P156A
Links:
UniProtKB: P07902#VAR_068549; dbSNP: rs111033764
NCBI 1000 Genomes Browser:
rs111033764
Molecular consequence:
  • NM_000155.4:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.466C>G - 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
SCV001431955Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Aug 30, 2023)
germlineclinical testing

PubMed (3)
[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

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL.

Hum Mol Genet. 2009 May 1;18(9):1624-32. doi: 10.1093/hmg/ddp080. Epub 2009 Feb 18.

PubMed [citation]
PMID:
19224951
PMCID:
PMC2667289

Mutational spectrum of classical galactosaemia in Spain and Portugal.

Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, GirĂ³s M, Briones P.

J Inherit Metab Dis. 2006 Dec;29(6):739-42. Epub 2006 Oct 14.

PubMed [citation]
PMID:
17041746
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001431955.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: GALT c.793C>G (p.Pro265Ala) results in a non-conservative amino acid change located in the C-terminal domain (IPR005850) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250752 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.793C>G has been reported in the literature in individuals affected with Galactosemia (Gort_2006, Carney_2009, Demirbas_2019), however, in at least one of these patients the variant was found in cis with a pathogenic variant (Gort_2006). These reports do not provide unequivocal conclusions about association of the variant with Galactosemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 19224951, 17041746, 30718057). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 30, 2024