NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Dec 16, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000790819.2

Allele description [Variation Report for NM_000402.4(G6PD):c.727G>T (p.Val243Leu)]

NM_000402.4(G6PD):c.727G>T (p.Val243Leu)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
Other names:
G6PD, VAL213LEU; G6PD MARION; G6PD MINNESOTA
HGVS:
  • NC_000023.11:g.154534345C>A
  • NG_009015.2:g.18228G>T
  • NM_000402.4:c.727G>T
  • NM_001042351.3:c.637G>T
  • NM_001360016.2:c.637G>TMANE SELECT
  • NP_000393.4:p.Val243Leu
  • NP_001035810.1:p.Val213Leu
  • NP_001346945.1:p.Val213Leu
  • NC_000023.10:g.153762560C>A
  • NM_001042351.1:c.637G>T
  • NM_001042351.2:c.637G>T
Protein change:
V213L; VAL213LEU
Links:
OMIM: 305900.0024; dbSNP: rs137852326
NCBI 1000 Genomes Browser:
rs137852326
Molecular consequence:
  • NM_000402.4:c.727G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.637G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.637G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231599EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 21, 2012)
germlineclinical testing

Citation Link,

SCV001715687Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Likely pathogenic
(Dec 16, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Citations

PubMed

DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants.

Beutler E, Kuhl W, Gelbart T, Forman L.

J Biol Chem. 1991 Mar 5;266(7):4145-50.

PubMed [citation]
PMID:
1999409

Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune'.

Beutler E, Westwood B, Kuhl W.

Acta Haematol. 1991;86(4):179-82.

PubMed [citation]
PMID:
1805484
See all PubMed Citations (4)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231599.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715687.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

PS4_moderate, PM1, PM2, PP5, BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 18, 2021

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