Submissions for variant NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile)

dbSNP: rs1432015707

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755990	SCV000883680	uncertain significance	not provided	2017-06-19	criteria provided, single submitter	clinical testing	The p.Met359Ile variant has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is also absent from population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Exome Aggregation Consortium (ExAC) browser. The methionine at codon 359 is weakly conserved considering 14 species (Alamut software v2.8.1), and several species of mammal have an isoleucine at this position, suggesting this change is evolutionary tolerated. Furthermore, computational analyses suggest this variant does not have a significant effect on CPT1A protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, based on the available information, the clinical significance of the p.Met359Ile variant cannot be determined with certainty.
Natera, Inc.	RCV001274164	SCV001457992	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2020-03-10	no assertion criteria provided	clinical testing