NM_000155.4(GALT):c.997C>T (p.Arg333Trp) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 5, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000723400.3

Allele description [Variation Report for NM_000155.4(GALT):c.997C>T (p.Arg333Trp)]

NM_000155.4(GALT):c.997C>T (p.Arg333Trp)

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.997C>T (p.Arg333Trp)
HGVS:
  • NC_000009.12:g.34649502C>T
  • NG_009029.2:g.7914C>T
  • NG_028966.1:g.2318C>T
  • NM_000155.4:c.997C>TMANE SELECT
  • NM_001258332.2:c.670C>T
  • NP_000146.2:p.Arg333Trp
  • NP_001245261.1:p.Arg224Trp
  • NC_000009.11:g.34649499C>T
  • NM_000155.1:c.997C>T
  • NM_000155.2:c.997C>T
  • NM_000155.3:c.997C>T
  • P07902:p.Arg333Trp
Protein change:
R224W; ARG333TRP
Links:
UniProtKB: P07902#VAR_002627; OMIM: 606999.0002; dbSNP: rs111033800
NCBI 1000 Genomes Browser:
rs111033800
Molecular consequence:
  • NM_000155.4:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.670C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110084EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Sep 2, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001874162GeneDxcriteria provided, single submitter
Pathogenic
(Aug 5, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Citations

PubMed

Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.

Riehman K, Crews C, Fridovich-Keil JL.

J Biol Chem. 2001 Apr 6;276(14):10634-40. Epub 2001 Jan 4.

PubMed [citation]
PMID:
11152465

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Reichardt JK, Packman S, Woo SL.

Am J Hum Genet. 1991 Oct;49(4):860-7.

PubMed [citation]
PMID:
1897530
PMCID:
PMC1683190

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110084.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

From GeneDx, SCV001874162.1

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

Description

Published functional studies demonstrate very low galactose-1-phosphate uridyl transferase activity compared to wild-type (Riehman et al., 2001; Reichardt et al. 1991); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 31194252, 25124065, 25174965, 26419375, 15633893, 22944367, 10408771, 11678552, 25622686, 20663501, 21960482, 8598637, 18813948, 8522334, 15775761, 20547145, 7474913, 10384398, 9686364, 8051928, 12208137, 23430559, 19181333, 18207281, 8692963, 17143577, 10573007, 8943248, 8892021, 19224951, 10399107, 7550229, 2011574, 1897530, 20008339, 11152465, 25592817, 25087612)

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

Last Updated: Dec 4, 2021

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