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NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 22, 2020
Accession:
VCV000010391.4
Variation ID:
10391
Description:
single nucleotide variant
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NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)

Allele ID
25430
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154534390 (GRCh38) GRCh38 UCSC
X: 153762605 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153762605G>A
NC_000023.11:g.154534390G>A
NG_009015.2:g.18183C>T
... more HGVS
Protein change
R198C, R228C
Other names
G6PD, ARG198CYS
Canonical SPDI
NC_000023.11:154534389:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
1000 Genomes Project 0.00026
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA120998
OMIM: 305900.0031
OMIM: 305900.0032
dbSNP: rs137852330
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jan 22, 2020 RCV000991015.3
G6PD COIMBRA
other 1 no assertion criteria provided May 24, 2017 RCV000011126.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PD - - GRCh38
GRCh37
221 459

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Allele origin: unknown
Mendelics
Accession: SCV001142108.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Jan 22, 2020)
criteria provided, single submitter
Method: clinical testing
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Allele origin: germline
Invitae
Accession: SCV001586055.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces arginine with cysteine at codon 198 of the G6PD protein (p.Arg198Cys). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
(X-linked recessive inheritance)
Allele origin: germline
LifeCell International Pvt. Ltd
Accession: SCV001443092.1
Submitted: (Nov 12, 2020)
Evidence details
Comment:
This variant in exon 6 of the G6PD gene results in the amino acid substitution from Arginine to Cystine at codon 228 (p.Arg228Cys) with the … (more)
other
(May 24, 2017)
no assertion criteria provided
Method: literature only
G6PD COIMBRA
Allele origin: germline
OMIM
Accession: SCV000031353.3
Submitted: (Apr 18, 2013)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India. Chalvam R Journal of human genetics 2008 PMID: 18043863
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia. Kawamoto F Journal of human genetics 2006 PMID: 16927025
G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population. Louicharoen C Journal of human genetics 2005 PMID: 16155737
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia. Iwai K Human genetics 2001 PMID: 11499668
Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes. Tang TK Human genetics 1995 PMID: 7789945
Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Escherichia coli: a system to analyze normal and mutant enzymes. Tang TK Blood 1994 PMID: 8118045
Molecular heterogeneity underlying the G6PD Mediterranean phenotype. Corcoran CM Human genetics 1992 PMID: 1551674

Text-mined citations for rs137852330...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021