NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) AND Phosphoglycerate kinase 1 deficiency

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000010634.4

Allele description [Variation Report for NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)]

NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)

Gene:
PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)
Other names:
PGK Afula
HGVS:
  • NC_000023.11:g.78125344A>C
  • NG_008862.1:g.26176A>C
  • NM_000291.4:c.1132A>CMANE SELECT
  • NP_000282.1:p.Thr378Pro
  • NC_000023.10:g.77380841A>C
Protein change:
T378P; THR378PRO
Links:
OMIM: 311800.0015; dbSNP: rs137852539
NCBI 1000 Genomes Browser:
rs137852539
Molecular consequence:
  • NM_000291.4:c.1132A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phosphoglycerate kinase 1 deficiency
Synonyms:
PGK1 DEFICIENCY
Identifiers:
MONDO: MONDO:0010392; MedGen: C1970848; Orphanet: 713; OMIM: 300653

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030860OMIMno assertion criteria providedPathogenic
(Mar 1, 2009)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S.

Neuromuscul Disord. 2009 Mar;19(3):207-11. doi: 10.1016/j.nmd.2008.12.004. Epub 2009 Jan 20.

PubMed [citation]
PMID:
19157875

Details of each submission

From OMIM, SCV000030860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 18-year-old man of Arab Bedouin descent with PGK1 deficiency (300653), Spiegel et al. (2009) identified a 1132A-C transversion in exon 10 of the PGK1 gene, resulting in a thr378-to-pro (T378P) substitution in a highly conserved residue. The patient had a myopathic phenotype, with onset of muscle cramps and exercise-induced pigmenturia at age 7 years. He had no evidence of hemolytic anemia or neurologic involvement; serum creatine kinase was increased. Protein structural analysis predicted that the mutation would destabilize an alpha-helix and interfere with the contact of domains responsible for proper catalytic interactions with nucleotide phosphates. Biochemical studies showed decreased PGK1 activity in muscle (0.9% of control values) and erythrocytes (1.6%). The patient's unaffected mother and 2 sisters were heterozygous for the mutation.

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

Last Updated: Apr 17, 2020

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