ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1465A>G (p.Met489Val)

gnomAD frequency: 0.00001  dbSNP: rs1027117038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002006013 SCV002273177 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 489 of the CPT1A protein (p.Met489Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CPT1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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