ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)

dbSNP: rs2153995212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000046 SCV002228490 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr589*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.1766_1767insACATA. This premature translational stop signal has been observed in individual(s) with carnitine palmitoyltransferase Ia deficiency (PMID: 23430491). This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV002000046 SCV004210995 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-06-19 criteria provided, single submitter clinical testing

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