ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.727C>T (p.Arg243Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448713 SCV004176358 uncertain significance Hereditary spastic paraplegia 73 2023-02-14 criteria provided, single submitter clinical testing The missense c.727C>T(p.Arg243Cys) variant in CPT1C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.0004% in the gnomAD Exomes and novel in 1000 Genomes. The amino acid Arg at position 243 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg243Cys in CPT1C is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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