Submissions for variant NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)

gnomAD frequency: 0.00011  dbSNP: rs202208941

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV001279743	SCV002775766	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2021-10-06	criteria provided, single submitter	clinical testing
Invitae	RCV001279743	SCV002951208	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2022-04-06	criteria provided, single submitter	clinical testing	This sequence change affects codon 745 of the CPT1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CPT1A protein. This variant also falls at the last nucleotide of exon 18, which is part of the consensus splice site for this exon. This variant is present in population databases (rs202208941, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 991520). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc.	RCV001279743	SCV001466864	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2020-04-16	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356689	SCV001551928	uncertain significance	not provided		no assertion criteria provided	clinical testing