ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)

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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 RCV002612089 SCV003507766 pathogenic Hereditary spastic paraplegia 73 2022-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln218*) in the CPT1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1C are known to be pathogenic (PMID: 30564185, 30911584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CPT1C-related conditions. For these reasons, this variant has been classified as Pathogenic.

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