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NM_000155.4(GALT):c.554C>T (p.Pro185Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2024
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:
RCV001844015.3

Allele description [Variation Report for NM_000155.4(GALT):c.554C>T (p.Pro185Leu)]

NM_000155.4(GALT):c.554C>T (p.Pro185Leu)

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.554C>T (p.Pro185Leu)
HGVS:
  • NC_000009.12:g.34648161C>T
  • NG_009029.2:g.6573C>T
  • NG_028966.1:g.977C>T
  • NM_000155.4:c.554C>TMANE SELECT
  • NM_001258332.2:c.227C>T
  • NP_000146.2:p.Pro185Leu
  • NP_001245261.1:p.Pro76Leu
  • NC_000009.11:g.34648158C>T
  • NM_000155.3:c.554C>T
  • P07902:p.Pro185Leu
Protein change:
P76L
Links:
UniProtKB: P07902#VAR_068828; dbSNP: rs111033722
NCBI 1000 Genomes Browser:
rs111033722
Molecular consequence:
  • NM_000155.4:c.554C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.227C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002103376Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 11, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R.

Hum Mutat. 2007 Oct;28(10):939-43.

PubMed [citation]
PMID:
17486650

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L, Yue WW.

Hum Mol Genet. 2016 Jun 1;25(11):2234-2244. Epub 2016 Mar 22.

PubMed [citation]
PMID:
27005423
PMCID:
PMC5081055
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002103376.2

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

Description

Variant summary: GALT c.554C>T (p.Pro185Leu) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, N-terminal domain (IPR005849) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251476 control chromosomes. c.554C>T has been reported in the literature in the compound heterozygous state with the c.[940A>G;-119_-116delGTCA] Duarte variant (D2) in at least 2 individuals affected with biochemically and clinically confirmed Galactosemia (example, Singh_2012). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 23022339). ClinVar contains an entry for this variant (Variation ID: 25213). 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