NM_001360016.2(G6PD):c.634A>G (p.Met212Val) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Aug 12, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV002305856.6

Allele description [Variation Report for NM_001360016.2(G6PD):c.634A>G (p.Met212Val)]

NM_001360016.2(G6PD):c.634A>G (p.Met212Val)

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.634A>G (p.Met212Val)

Other names:

G6PD Sibari

HGVS:

NC_000023.11:g.154534348T>C
NG_009015.2:g.18225A>G
NM_000402.4:c.724A>G
NM_001042351.3:c.634A>G
NM_001360016.2:c.634A>GMANE SELECT
NP_000393.4:p.Met242Val
NP_001035810.1:p.Met212Val
NP_001035810.1:p.Met212Val
NP_001346945.1:p.Met212Val
NC_000023.10:g.153762563T>C
NM_001042351.1:c.634A>G
NM_001042351.2:c.634A>G

Protein change:

M212V

Molecular consequence:

NM_000402.4:c.724A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.634A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.634A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Synonyms:: Hemolytic anemia due to G6PD deficiency; Favism, susceptibility to; Class I glucose-6-phosphate dehydrogenase deficiency
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
SCV002599213	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Likely pathogenic (Aug 12, 2022)	unknown	curation	PubMed (3) [See all records that cite these PMIDs] 23006493, 8447319, 29300386
SCV003828417	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 22, 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

SCV002599213

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Likely pathogenic
(Aug 12, 2022)

unknown

curation

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

SCV003828417

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 22, 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	unknown	yes	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

Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.

Dallol A, Banni H, Gari MA, Al-Qahtani MH, Abuzenadeh AM, Al-Sayes F, Chaudhary AG, Bidwell J, Kafienah W.

J Transl Med. 2012 Sep 24;10:199. doi: 10.1186/1479-5876-10-199.

PubMed [citation]

PMID:: 23006493
PMCID:: PMC3492101

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.

Calabrò V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L.

Am J Hum Genet. 1993 Mar;52(3):527-36.

PubMed [citation]

PMID:: 8447319
PMCID:: PMC1682169

See all PubMed Citations (4)

Details of each submission

From Dunham Lab, University of Washington, SCV002599213.1

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

Description

Variant found in unrelated patients with deficiency (PS4_M, PP4). Decreased activity in red blood cells of hemizygotes (13-20%) (PS3). Below expected carrier frequency in gnomAD (PM2). 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 Revvity Omics, Revvity, SCV003828417.2

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

#	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: Sep 29, 2024

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