NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Feb 6, 2023
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:: RCV002305498.4

Allele description [Variation Report for NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)]

NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)

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.1318C>T (p.Leu440Phe)

Other names:

G6PD Kobe; G6PD Telti

HGVS:

NC_000023.11:g.154532432G>A
NG_009015.2:g.20141C>T
NM_000402.4:c.1408C>T
NM_001042351.3:c.1318C>T
NM_001360016.2:c.1318C>TMANE SELECT
NP_000393.4:p.Leu470Phe
NP_001035810.1:p.Leu440Phe
NP_001346945.1:p.Leu440Phe
NC_000023.10:g.153760647G>A
NM_001042351.1:c.1318C>T
NM_001042351.3:c.1318C>T

Protein change:

L440F

Links:

dbSNP: rs1557229599

NCBI 1000 Genomes Browser:

rs1557229599

Molecular consequence:

NM_000402.4:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1318C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1318C>T - 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
SCV002599388	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Pathogenic (Aug 12, 2022)	unknown	curation	PubMed (4) [See all records that cite these PMIDs] 7327562, 7858267, 8141125, 29300386
SCV004238195	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 6, 2023)	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

SCV002599388

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Pathogenic
(Aug 12, 2022)

unknown

curation

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

SCV004238195

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 6, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge.

Fujii H, Miwa S, Tani K, Takegawa S, Fujinami N, Takahashi K, Nakayama S, Konno M, Sato T.

Hum Genet. 1981;58(4):405-7.

PubMed [citation]

PMID:: 7327562

New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

Mason PJ, Sonati MF, MacDonald D, Lanza C, Busutil D, Town M, Corcoran CM, Kaeda JS, Stevens DJ, al-Ismail S, et al.

Blood. 1995 Mar 1;85(5):1377-80.

PubMed [citation]

PMID:: 7858267

See all PubMed Citations (5)

Details of each submission

From Dunham Lab, University of Washington, SCV002599388.1

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

Description

Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). Decreased activity in red blood cells of hemizygotes (4-21%) (PS3). Alters dimer interface (PM5). Not found in gnomAD (PM2). Reported as pathogenic by ARUP Laboratories (PP5). Post_P 0.999 (odds of pathogenicity 6568, 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, SCV004238195.1

#	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: Oct 20, 2024

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