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NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 6, 2020)
Last evaluated:
Oct 23, 2019
Accession:
VCV000093499.5
Variation ID:
93499
Description:
single nucleotide variant
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NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)

Allele ID
99404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154535270 (GRCh38) GRCh38 UCSC
X: 153763485 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153763485A>G
NC_000023.11:g.154535270A>G
NG_009015.2:g.17303T>C
... more HGVS
Protein change
L128P, L158P
Other names
-
Canonical SPDI
NC_000023.11:154535269:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA203034
dbSNP: rs78365220
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 29, 2013 RCV000178824.1
Pathogenic 1 criteria provided, single submitter Sep 20, 2018 RCV000778895.1
Pathogenic 1 criteria provided, single submitter Oct 23, 2019 RCV000799977.2
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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
222 461

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 29, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230986.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Sep 20, 2018)
criteria provided, single submitter
Method: clinical testing
Glucose 6 phosphate dehydrogenase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915300.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (5)
Comment:
The G6PD c.383T>C (p.Leu128Pro) variant has been reported in five studies and is found in a total of at least 27 patients (Ganczakowski et al. … (more)
Pathogenic
(Oct 23, 2019)
criteria provided, single submitter
Method: clinical testing
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Allele origin: germline
Invitae
Accession: SCV000939671.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces leucine with proline at codon 128 of the G6PD protein (p.Leu128Pro). The leucine residue is moderately conserved and there is a … (more)

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
Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. Gómez-Manzo S International journal of molecular sciences 2016 PMID: 27213370
Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi. Tanphaichitr VS Annals of hematology 2011 PMID: 21302115
Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia. Matsuoka H Journal of human genetics 2003 PMID: 14505231
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. Ainoon O Human mutation 2003 PMID: 12497642
Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants. Hamel AR Blood cells, molecules & diseases 2002 PMID: 12367584
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia. Yusoff NM International journal of hematology 2002 PMID: 12215013
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia. Iwai K Human genetics 2001 PMID: 11499668
Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific). Ganczakowski M American journal of human genetics 1995 PMID: 7825590
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=G6PD - - - -

Text-mined citations for rs78365220...

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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 Nov 20, 2021