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NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2023
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:
RCV003230439.3

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003928783Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 12, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003928783.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: CPT2 c.691C>T (p.Arg231Trp) results in a non-conservative amino acid change located in the Choline/carnitine acyltransferase domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 250840 control chromosomes. c.691C>T has been reported in the literature in individuals affected with Carnitine Palmitoyltransferase II Deficiency. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (VUS n=4, pathogenic n=1). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Dec 22, 2024