ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter)

dbSNP: rs1594334937
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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 RCV000799501 SCV000939166 pathogenic Carnitine palmitoyl transferase 1A deficiency 2018-11-11 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln406*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product.

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