NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND Glucose 6 phosphate dehydrogenase deficiency

Clinical significance:Pathogenic (Last evaluated: Sep 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778895.1

Allele description [Variation Report for NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)]

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

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.383T>C (p.Leu128Pro)
HGVS:
  • NC_000023.11:g.154535270A>G
  • NG_009015.2:g.17303T>C
  • NM_000402.4:c.473T>C
  • NM_001042351.3:c.383T>C
  • NM_001360016.2:c.383T>CMANE SELECT
  • NP_000393.4:p.Leu158Pro
  • NP_001035810.1:p.Leu128Pro
  • NP_001346945.1:p.Leu128Pro
  • NC_000023.10:g.153763485A>G
  • NM_001042351.1:c.383T>C
  • NM_001042351.2:c.383T>C
Protein change:
L128P
Links:
dbSNP: rs78365220
NCBI 1000 Genomes Browser:
rs78365220
Molecular consequence:
  • NM_000402.4:c.473T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.383T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.383T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glucose 6 phosphate dehydrogenase deficiency
Synonyms:
G6PD A-
Identifiers:
MONDO: MONDO:0005775; MedGen: C2939465

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915300Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Pathogenic
(Sep 20, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.

Hamel AR, Cabral IR, Sales TS, Costa FF, Olalla Saad ST.

Blood Cells Mol Dis. 2002 May-Jun;28(3):399-406.

PubMed [citation]
PMID:
12367584

Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

Ganczakowski M, Town M, Bowden DK, Vulliamy TJ, Kaneko A, Clegg JB, Weatherall DJ, Luzzatto L.

Am J Hum Genet. 1995 Jan;56(1):294-301.

PubMed [citation]
PMID:
7825590
PMCID:
PMC1801293
See all PubMed Citations (5)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915300.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

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. 1995, Hamel et al. 2002, Ainoon et al. 2003, Matsuoka et al. 2003, Hung et al. 2008). Control data are unavailable for p.Leu128Pro, which is reported at a frequency of 0.000052 in the South Asain population of the Genome Aggregation Database but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Gomez-Manzo et al. (2016) transformed the p.Leu128Pro variant into competent E. Coli which demonstrated low purification yield, low catalytic efficiency, low affinity for substrate, decrease in thermal stability, and low conformational stability compared with wild type (WT). Based on this evidence the p.Leu128Pro variant is interpreted as pathogenic for G6PD deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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