ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.742del (p.Leu248fs)

dbSNP: rs2154000018
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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 RCV001924623 SCV002148944 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected 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.Leu248Serfs*3) 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).

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