NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 12, 2022
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:: RCV000011130.8

Allele description [Variation Report for NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)]

NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)

Gene:

G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)

Other names:

G6PD, ARG198PRO; G6PD Santiago

HGVS:

NC_000023.11:g.154534389C>G
NG_009015.2:g.18184G>C
NM_000402.4:c.683G>C
NM_001042351.3:c.593G>C
NM_001360016.2:c.593G>CMANE SELECT
NP_000393.4:p.Arg228Pro
NP_001035810.1:p.Arg198Pro
NP_001346945.1:p.Arg198Pro
NC_000023.10:g.153762604C>G
NM_001042351.1:c.593G>C

Protein change:

R198P; ARG198PRO

Links:

OMIM: 305900.0034; dbSNP: rs137852332

NCBI 1000 Genomes Browser:

rs137852332

Molecular consequence:

NM_000402.4:c.683G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.593G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)
Synonyms:: Hemolytic anemia due to G6PD deficiency; Favism, susceptibility to; Class I glucose-6-phosphate dehydrogenase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010480; MedGen: C2720289; Orphanet: 466026; OMIM: 300908

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002599210	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Likely pathogenic (Aug 12, 2022)	unknown	curation	PubMed (4) [See all records that cite these PMIDs] 1611091, 16193512, 31294066, 29300386
SCV005374534	OMIM	no assertion criteria provided	Pathogenic (Oct 11, 2024)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599210

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Likely pathogenic
(Aug 12, 2022)

unknown

curation

PubMed (4)
[See all records that cite these PMIDs]

SCV005374534

OMIM

no assertion criteria provided

Pathogenic
(Oct 11, 2024)

germline

literature only

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.

Beutler E, Westwood B, Prchal JT, Vaca G, Bartsocas CS, Baronciani L.

Blood. 1992 Jul 1;80(1):255-6.

PubMed [citation]

PMID:: 1611091

Parallel analysis of mutant human glucose 6-phosphate dehydrogenase in yeast using PCR colonies.

Merritt J, Butz JA, Ogunnaike BA, Edwards JS.

Biotechnol Bioeng. 2005 Dec 5;92(5):519-31.

PubMed [citation]

PMID:: 16193512

See all PubMed Citations (5)

Details of each submission

From Dunham Lab, University of Washington, SCV002599210.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

Description

Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Undetectable activity in red blood cells of hemizygote and when expressed in S. cerevisiae (PS3). Not observed in gnomAD (PM2). Alters substrate binding site (PM1). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).

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

From OMIM, SCV005374534.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Chilean patient with nonspherocytic hemolytic anemia (CNSHA1; 300908), Beutler et al. (1992) identified a G-to-C transversion at nucleotide 593 leading to an arg198-to-pro substitution. They suggested G6PD Santiago as the designation. (G6PD Santiago de Cuba is a different mutation; see 305900.0009.)

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

Last Updated: Oct 20, 2024

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