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NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2021
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:
RCV004018983.1

Allele description [Variation Report for NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)]

NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)

Gene:
CPT1A:carnitine palmitoyltransferase 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
Other names:
CPT1A, PRO479LEU (rs80356779)
HGVS:
  • NC_000011.10:g.68780662G>A
  • NG_011801.1:g.66270C>T
  • NM_001031847.3:c.1436C>T
  • NM_001876.4:c.1436C>TMANE SELECT
  • NP_001027017.1:p.Pro479Leu
  • NP_001867.2:p.Pro479Leu
  • NP_001867.2:p.Pro479Leu
  • NC_000011.9:g.68548130G>A
  • NM_001876.3:c.1436C>T
  • P50416:p.Pro479Leu
Protein change:
P479L; PRO479LEU
Links:
UniProtKB: P50416#VAR_020555; OMIM: 600528.0012; dbSNP: rs80356779
NCBI 1000 Genomes Browser:
rs80356779
Molecular consequence:
  • NM_001031847.3:c.1436C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001876.4:c.1436C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004850231Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 25, 2021) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC.

J Lipid Res. 2001 Jul;42(7):1134-42.

PubMed [citation]
PMID:
11441142

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.

Rajakumar C, Ban MR, Cao H, Young TK, Bjerregaard P, Hegele RA.

J Lipid Res. 2009 Jun;50(6):1223-8. doi: 10.1194/jlr.P900001-JLR200. Epub 2009 Jan 29.

PubMed [citation]
PMID:
19181627
PMCID:
PMC2681405
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV004850231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The c.1436C>T (p.P479L) alteration is located in exon 12 (coding exon 11) of the CPT1A gene. This alteration results from a C to T substitution at nucleotide position 1436, causing the proline (P) at amino acid position 479 to be replaced by a leucine (L). Based on data from gnomAD, the T allele has an overall frequency of 0.003% (9/282900) total alleles studied. This mutation is a prevalent mutation in Inuit and Alaska Native populations, commonly identified in the homozygous state (Brown, 2001; Rajakumar, 2009; Greenberg, 2009; Collins, 2010; Clemente, 2014). Some homozygous infants demonstrate impaired fasting intolerance (Gillingham, 2011) and increased risk of infant mortality (Gessner, 2016). CPT1 activity in fibroblasts from homozygous individuals demonstrated reduced activity compared to controls between 2-16% (Brown, 2001; Greenberg, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Apr 20, 2025