ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.465del (p.Ile156fs)

dbSNP: rs1855979917
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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 RCV001047675 SCV001211652 pathogenic Carnitine palmitoyl transferase 1A deficiency 2019-12-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant has not been reported in the literature in individuals with CPT1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile156Serfs*28) in the CPT1A gene. It is expected to result in an absent or disrupted protein product.

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