ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)

dbSNP: rs926409425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155667 SCV003844432 likely pathogenic Joubert syndrome and related disorders 2023-02-07 criteria provided, single submitter clinical testing Variant summary: CPLANE1 c.2490_2494delATCTA (p.Lys830AsnfsX13) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in individuals affected with Joubert syndrome (HGMD). The variant was absent in 156046 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2490_2494delATCTA in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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