ClinVar Miner

Submissions for variant NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter)

gnomAD frequency: 0.00002  dbSNP: rs752457309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262677 SCV001440628 pathogenic Autosomal recessive early-onset Parkinson disease 23 2019-01-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017812 SCV004847663 likely pathogenic Young-onset Parkinson disease 2019-03-07 criteria provided, single submitter clinical testing The p.Arg371X variant VPS13C has not been previously reported in individuals with Parkinson disease but has been identified in 2/4994 of African chromosomes by gnomAD (http://gnomad.broadinstitute.org).This nonsense variant leads to a premature termination codon at position 371, which is predicted to lead to a truncated or absent protein. Loss of function of the VPS13C gene has been recently associated with autosomal recessive early onset parkinsonism (Schormair 2018; Lesage 2016; Darvish 2018). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive early onset parkinsonism. ACMG/AMP Criteria applied: PM2, PVS1_Strong.

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