NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys) AND Carnitine palmitoyl transferase 1A deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 28, 2019
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:: RCV001833236.1

Allele description [Variation Report for NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys)]

NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys)

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.557A>G (p.Tyr186Cys)

HGVS:

NC_000011.10:g.68799354T>C
NG_011801.1:g.47578A>G
NM_001031847.3:c.557A>G
NM_001876.4:c.557A>GMANE SELECT
NP_001027017.1:p.Tyr186Cys
NP_001867.2:p.Tyr186Cys
NC_000011.9:g.68566822T>C

Protein change:

Y186C

Links:

dbSNP: rs759188040

NCBI 1000 Genomes Browser:

rs759188040

Molecular consequence:

NM_001031847.3:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001876.4:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Carnitine palmitoyl transferase 1A deficiency
Synonyms:: Carnitine palmitoyltransferase 1A deficiency; CPT deficiency, hepatic, type IA; Carnitine palmitoyltransferase type I deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009705; MedGen: C1829703; Orphanet: 156; OMIM: 255120

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
SCV002092969	Natera, Inc.	no assertion criteria provided	Uncertain significance (Oct 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002092969

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Oct 28, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002092969.1

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

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

Last Updated: Jun 8, 2025

ClinVar

Relating variation to medicine