ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)

dbSNP: rs751933977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001256201 SCV001430139 likely pathogenic Hereditary spastic paraplegia 73 2020-08-18 criteria provided, single submitter clinical testing The CPT1C variant c.2T>G is not found in the gnomAD database and affects the start codon of the CPT1C gene, which may lead to a complete loss of function of the CPT1C protein. Thus, we consider this variant to be likely pathogenic. ACMG criteria used for classification: PVS1, PM2.

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