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NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) AND Carnitine palmitoyl transferase II deficiency, severe infantile form

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2018
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:
RCV000674663.5

Allele description [Variation Report for NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)]

NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)

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.691C>T (p.Arg231Trp)
HGVS:
  • NC_000001.11:g.53210365C>T
  • NG_008035.1:g.18937C>T
  • NM_000098.3:c.691C>TMANE SELECT
  • NM_001330589.2:c.691C>T
  • NP_000089.1:p.Arg231Trp
  • NP_001317518.1:p.Arg231Trp
  • NC_000001.10:g.53676037C>T
  • NM_000098.2:c.691C>T
  • p.Arg231Trp
Protein change:
R231W
Links:
dbSNP: rs373638740
NCBI 1000 Genomes Browser:
rs373638740
Molecular consequence:
  • NM_000098.3:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330589.2:c.691C>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800042Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 18, 2018) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Isackson PJ, Bennett MJ, Vladutiu GD.

Mol Genet Metab. 2006 Dec;89(4):323-31. Epub 2006 Sep 22.

PubMed [citation]
PMID:
16996287

Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.

Joshi PR, Deschauer M, Zierz S.

J Neurol Sci. 2014 Mar 15;338(1-2):107-11. doi: 10.1016/j.jns.2013.12.026. Epub 2013 Dec 23.

PubMed [citation]
PMID:
24398345

Details of each submission

From Counsyl, SCV000800042.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024