NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) AND Carnitine palmitoyl transferase II deficiency, severe infantile form

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 26, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000667275.1

Allele description [Variation Report for NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)]

NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)

Gene:

CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)

Other names:

p.Met342Thr

HGVS:

NC_000001.11:g.53210699T>C
NG_008035.1:g.19271T>C
NM_000098.3:c.1025T>CMANE SELECT
NM_001330589.2:c.1025T>C
NP_000089.1:p.Met342Thr
NP_001317518.1:p.Met342Thr
NC_000001.10:g.53676371T>C
NM_000098.2:c.1025T>C

Protein change:

M342T

Links:

dbSNP: rs144658100

NCBI 1000 Genomes Browser:

rs144658100

Molecular consequence:

NM_000098.3:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Carnitine palmitoyl transferase II deficiency, severe infantile form
Synonyms:: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; CPT II DEFICIENCY, HEPATIC; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010914; MedGen: C1833511; Orphanet: 228305; OMIM: 600649

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
SCV000791697	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 26, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791697

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(May 26, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT, Dubé JB, Loyzer MN, MacDonald A, Carter DE, McIntyre AD, Cao H, Wang J, Robinson JF, Hegele RA.

J Lipid Res. 2014 Apr;55(4):765-72. doi: 10.1194/jlr.D045963. Epub 2014 Feb 6.

PubMed [citation]

PMID:: 24503134
PMCID:: PMC3966710

Details of each submission

From Counsyl, SCV000791697.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine