NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jun 20, 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:: RCV002305739.4

Allele description [Variation Report for NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)]

NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)

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.1358T>A (p.Val453Glu)

Other names:

G6PD Harima

HGVS:

NC_000023.11:g.154532392A>T
NG_009015.2:g.20181T>A
NM_000402.4:c.1448T>A
NM_001042351.3:c.1358T>A
NM_001360016.2:c.1358T>AMANE SELECT
NP_000393.4:p.Val483Glu
NP_001035810.1:p.Val453Glu
NP_001035810.1:p.Val453Glu
NP_001346945.1:p.Val453Glu
NC_000023.10:g.153760607A>T
NM_001042351.1:c.1358T>A
NM_001042351.2:c.1358T>A

Protein change:

V453E

Molecular consequence:

NM_000402.4:c.1448T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1358T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1358T>A - 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
SCV002599288	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Likely pathogenic (Aug 12, 2022)	unknown	curation	PubMed (2) [See all records that cite these PMIDs] 9410474, 29300386
SCV004238197	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 20, 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

SCV002599288

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Likely pathogenic
(Aug 12, 2022)

unknown

curation

PubMed (2)
[See all records that cite these PMIDs]

SCV004238197

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 20, 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

Hematologically important mutations: glucose-6-phosphate dehydrogenase.

Bulliamy T, Luzzatto L, Hirono A, Beutler E.

Blood Cells Mol Dis. 1997 Aug;23(2):302-13. Review. No abstract available.

PubMed [citation]

PMID:: 9410474

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)..

Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.

PubMed [citation]

PMID:: 29300386
PMCID:: PMC6336098

See all PubMed Citations (3)

Details of each submission

From Dunham Lab, University of Washington, SCV002599288.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Decreased actvity in red blood cells (PS3). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, 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, SCV004238197.1

#	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: Mar 30, 2024

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