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NM_005276.4(GPD1):c.640T>C (p.Cys214Arg) AND Transient infantile hypertriglyceridemia and hepatosteatosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2024
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:
RCV004573502.1

Allele description [Variation Report for NM_005276.4(GPD1):c.640T>C (p.Cys214Arg)]

NM_005276.4(GPD1):c.640T>C (p.Cys214Arg)

Gene:
GPD1:glycerol-3-phosphate dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_005276.4(GPD1):c.640T>C (p.Cys214Arg)
HGVS:
  • NC_000012.12:g.50107594T>C
  • NG_032155.1:g.614T>C
  • NG_032168.1:g.8776T>C
  • NM_001257199.2:c.571T>C
  • NM_005276.4:c.640T>CMANE SELECT
  • NP_001244128.1:p.Cys191Arg
  • NP_005267.2:p.Cys214Arg
  • NC_000012.11:g.50501377T>C
  • NM_005276.3:c.640T>C
Protein change:
C191R; CYS214ARG
Links:
OMIM: 138420.0004
Molecular consequence:
  • NM_001257199.2:c.571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005276.4:c.640T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Transient infantile hypertriglyceridemia and hepatosteatosis
Synonyms:
Hypertriglyceridemia, transient infantile
Identifiers:
MONDO: MONDO:0013771; MedGen: C3280953; Orphanet: 300293; OMIM: 614480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005049925OMIM
no assertion criteria provided
Pathogenic
(Jun 6, 2024) 		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

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Dionisi-Vici C, Shteyer E, Niceta M, Rizzo C, Pode-Shakked B, Chillemi G, Bruselles A, Semeraro M, Barel O, Eyal E, Kol N, Haberman Y, Lahad A, Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, Anikster Y.

J Inherit Metab Dis. 2016 Sep;39(5):689-695. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1.

PubMed [citation]
PMID:
27368975

Details of each submission

From OMIM, SCV005049925.1

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

Description

In 2 members of a consanguineous Italian family (patients C and D) with infantile hypertriglyceridemia (HTGTI; 614480), Dionisi-Vici et al. (2016) identified homozygosity for a c.640T-C transition (c.640T-C, NM_005276.3) in the GPD1 gene, resulting in a cys214-to-arg (C214R) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with disease in the family.

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

Last Updated: Jun 23, 2024