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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005049925	OMIM	no assertion criteria provided	Pathogenic (Jun 6, 2024)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005049925

OMIM

no assertion criteria provided

Pathogenic
(Jun 6, 2024)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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