ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2T>G (p.Met1Arg)

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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 RCV002730187 SCV003010737 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CPT1A protein in which other variant(s) (p.Ser34Pro) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the CPT1A mRNA. The next in-frame methionine is located at codon 70.

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