NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Clinical significance:Pathogenic (Last evaluated: Oct 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000799977.2

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:
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Synonyms:
Hemolytic anemia due to G6PD deficiency; Glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to
Identifiers:
MedGen: C2720289; OMIM: 300908

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000939671Invitaecriteria provided, single submitter
Pathogenic
(Oct 23, 2019)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia.

Yusoff NM, Shirakawa T, Nishiyama K, Ghazali S, Ee CK, Orita A, Abdullah WZ, Isa MN, Van Rostenberghe H, Matsuo M.

Int J Hematol. 2002 Aug;76(2):149-52.

PubMed [citation]
PMID:
12215013

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 (7)

Details of each submission

From Invitae, SCV000939671.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

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 moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in multiple individuals affected with G6PD deficiency (PMID: 7825590, 12215013, 11499668, 12497642, 21302115). ClinVar contains an entry for this variant (Variation ID: 93499). This variant has been reported to affect G6PD protein function (PMID: 27213370). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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