ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.2708del (p.Asn903fs) (rs863225190)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000201696 SCV000773863 pathogenic Joubert syndrome 21 2017-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn903Metfs*2) in the CSPP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781185694, ExAC 0.03%). This variant has been reported as homozygous in an individual affected with Joubert syndrome (PMID: 24360808). Loss-of-function variants in CSPP1 are known to be pathogenic (PMID: 24360807, 24360808). For these reasons, this variant has been classified as Pathogenic.
UW Hindbrain Malformation Research Program,University of Washington RCV000201696 SCV000256396 pathogenic Joubert syndrome 21 2015-02-23 criteria provided, single submitter research

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