ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)

dbSNP: rs1201375699
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206028 SCV001377315 pathogenic Joubert syndrome 21 2021-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu43*) in the CSPP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CSPP1 are known to be pathogenic (PMID: 24360807, 24360808). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 937081). This variant has not been reported in the literature in individuals affected with CSPP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%).

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