ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.1534C>T (p.Arg512Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066976 SCV001232002 pathogenic Joubert syndrome 21 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg512*) in the CSPP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs756752153, ExAC 0.009%). This variant has not been reported in the literature in individuals with CSPP1-related conditions. Loss-of-function variants in CSPP1 are known to be pathogenic (PMID: 24360807, 24360808). For these reasons, this variant has been classified as Pathogenic.

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