NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) AND Lipoyl transferase 1 deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2014
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:: RCV000170327.3

Allele description [Variation Report for NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)]

NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)

Genes:

LIPT1:lipoyltransferase 1 [Gene - OMIM - HGNC]
MITD1:microtubule interacting and trafficking domain containing 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

Preferred name:

NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)

Other names:

LIPT1, ARG98GLY (rs137973334)

HGVS:

NC_000002.12:g.99162249C>G
NG_050665.1:g.12295C>G
NM_001204830.2:c.292C>G
NM_015929.4:c.292C>G
NM_145197.3:c.292C>G
NM_145198.3:c.292C>G
NM_145199.3:c.292C>GMANE SELECT
NP_001191759.1:p.Arg98Gly
NP_057013.1:p.Arg98Gly
NP_660198.1:p.Arg98Gly
NP_660199.1:p.Arg98Gly
NP_660200.1:p.Arg98Gly
NC_000002.11:g.99778712C>G
NM_015929.3:c.292C>G
NR_037935.2:n.777C>G
NR_037936.2:n.441C>G
Q9Y234:p.Arg98Gly

Protein change:

R98G; ARG98GLY

Links:

UniProtKB: Q9Y234#VAR_073670; OMIM: 610284.0004; dbSNP: rs137973334

NCBI 1000 Genomes Browser:

rs137973334

Molecular consequence:

NM_001204830.2:c.292C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015929.4:c.292C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145197.3:c.292C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145198.3:c.292C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145199.3:c.292C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_037935.2:n.777C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037936.2:n.441C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Lipoyl transferase 1 deficiency
Synonyms:: Lipoyltransferase 1 deficiency
Identifiers:: MONDO: MONDO:0014576; MedGen: C4225379; Orphanet: 401862; OMIM: 616299

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222738	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2014)	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

SCV000222738

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2014)

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

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, García-Cazorla À, Briones P, Ribes A.

Hum Mol Genet. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20.

PubMed [citation]

PMID:: 24256811

Details of each submission

From OMIM, SCV000222738.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.292C-G transversion (rs137973334) in the LIPT1 gene, resulting in an arg98-to-gly (R98G) substitution, that was found in compound heterozygous state in a patient with lipoyltransferase-1 deficiency (LIPT1D; 616299) by Tort et al. (2014), see 610284.0003.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine