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NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) AND PGM1-congenital disorder of glycosylation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000032990.26

Allele description [Variation Report for NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)]

NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)

Gene:
PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)
HGVS:
  • NC_000001.11:g.63629539G>C
  • NG_016966.1:g.41264G>C
  • NM_001172818.1:c.415G>C
  • NM_001172819.2:c.-231G>C
  • NM_002633.3:c.361G>CMANE SELECT
  • NP_001166289.1:p.Gly139Arg
  • NP_002624.2:p.Gly121Arg
  • NC_000001.10:g.64095210G>C
  • NM_002633.2:c.361G>C
  • P36871:p.Gly121Arg
Protein change:
G121R; GLY121ARG
Links:
UniProtKB: P36871#VAR_069219; OMIM: 171900.0003; dbSNP: rs398122912
NCBI 1000 Genomes Browser:
rs398122912
Molecular consequence:
  • NM_001172819.2:c.-231G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001172818.1:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002633.3:c.361G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PGM1-congenital disorder of glycosylation
Synonyms:
CDG It; Congenital disorder of glycosylation type 1t; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013968; MedGen: C2752015; Orphanet: 319646; OMIM: 614921

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056769OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2012) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ.

Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5.

PubMed [citation]
PMID:
22492991

Details of each submission

From OMIM, SCV000056769.2

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

Description

In a boy of Colombian origin with congenital disorder of glycosylation type It (CDG1T; 614921), Timal et al. (2012) identified a homozygous 415G-C transversion in the PGM1 gene, resulting in a gly121-to-arg (G121R) substitution at a highly conserved residue. Cosegregation of the mutation in the family could not be determined because the child was adopted. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The patient had dilated cardiomyopathy, cerebral venous thrombosis, and elevated liver enzymes, and died at age 8 years. Studies in patient fibroblasts showed 7% residual enzyme activity.

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

Last Updated: Oct 8, 2022