NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 7, 2024
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:: RCV002305477.7

Allele description [Variation Report for NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)]

NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)

Other names:

G6PD Sao Borja

HGVS:

NC_000023.11:g.154535316C>T
NG_009015.2:g.17257G>A
NM_000402.4:c.427G>A
NM_001042351.3:c.337G>A
NM_001360016.2:c.337G>AMANE SELECT
NP_000393.4:p.Asp143Asn
NP_001035810.1:p.Asp113Asn
NP_001346945.1:p.Asp113Asn
NC_000023.10:g.153763531C>T
NM_001042351.1:c.337G>A

Protein change:

D113N

Links:

dbSNP: rs5030870

Molecular consequence:

NM_000402.4:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.337G>A - 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
SCV002599145	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Uncertain significance (Dec 5, 2024)	unknown	curation	PubMed (3) [See all records that cite these PMIDs] 9250351, 8436389, 29300386
SCV003445871	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 7, 2024)	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

SCV002599145

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Uncertain significance
(Dec 5, 2024)

unknown

curation

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

SCV003445871

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 7, 2024)

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	unknown	no	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.

Cittadella R, Civitelli D, Manna I, Azzia N, Di Cataldo A, Schilirò G, Brancati C.

Ann Hum Genet. 1997 May;61(Pt 3):229-34.

PubMed [citation]

PMID:: 9250351

Molecular characterization of glucose-6-phosphate dehydrogenase variants from Brazil.

Weimer TA, Salzano FM, Westwood B, Beutler E.

Hum Biol. 1993 Feb;65(1):41-7.

PubMed [citation]

PMID:: 8436389

See all PubMed Citations (4)

Details of each submission

From Dunham Lab, University of Washington, SCV002599145.2

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

Description

Variant found in hemizygotes without G6PD deficiency and the activity in red blood cells is within the normal range (BS2). Post_P 0.0059 (odds of pathogenicity 0.053, Prior_P 0.1).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003445871.2

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 113 of the G6PD protein (p.Asp113Asn). This variant is present in population databases (rs5030870, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. ClinVar contains an entry for this variant (Variation ID: 281819). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

#	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

Last Updated: May 9, 2026

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