NM_000175.5(GPI):c.247C>T (p.Arg83Trp) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 11, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001337514.8

Allele description [Variation Report for NM_000175.5(GPI):c.247C>T (p.Arg83Trp)]

NM_000175.5(GPI):c.247C>T (p.Arg83Trp)

Gene:

GPI:glucose-6-phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_000175.5(GPI):c.247C>T (p.Arg83Trp)

Other names:

p.Arg83Trp

HGVS:

NC_000019.10:g.34366816C>T
NG_012838.3:g.12225C>T
NM_000175.4:c.247C>T
NM_000175.5:c.247C>TMANE SELECT
NM_001184722.1:c.364C>T
NM_001289789.1:c.364C>T
NM_001289790.3:c.247C>T
NM_001329909.1:c.247C>T
NM_001329910.1:c.247C>T
NM_001329911.2:c.247C>T
NP_000166.2:p.Arg83Trp
NP_001171651.1:p.Arg122Trp
NP_001276718.1:p.Arg122Trp
NP_001276719.1:p.Arg83Trp
NP_001316838.1:p.Arg83Trp
NP_001316839.1:p.Arg83Trp
NP_001316840.1:p.Arg83Trp
LRG_1178t1:c.247C>T
LRG_1178:g.12225C>T
LRG_1178p1:p.Arg83Trp
NC_000019.9:g.34857721C>T

Protein change:

R122W

Links:

dbSNP: rs983725326

NCBI 1000 Genomes Browser:

rs983725326

Molecular consequence:

NM_000175.5:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001184722.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001289789.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001289790.3:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001329909.1:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001329910.1:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001329911.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001531120	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 3, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 7989588, 19064002, 28492532
SCV004224600	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 11, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001531120

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 3, 2020)

germline

clinical testing

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

SCV004224600

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 11, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.

Xu W, Beutler E.

J Clin Invest. 1994 Dec;94(6):2326-9.

PubMed [citation]

PMID:: 7989588
PMCID:: PMC330061

Effects of inherited mutations on catalytic activity and structural stability of human glucose-6-phosphate isomerase expressed in Escherichia coli.

Lin HY, Kao YH, Chen ST, Meng M.

Biochim Biophys Acta. 2009 Feb;1794(2):315-23. doi: 10.1016/j.bbapap.2008.11.004. Epub 2008 Nov 21.

PubMed [citation]

PMID:: 19064002

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001531120.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant has been observed in individual(s) with clinical features of hemolytic anemia (PMID: 7989588). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect GPI protein function (PMID: 7989588, 19064002). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 83 of the GPI protein (p.Arg83Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224600.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

PM2, PM3_supporting

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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