ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)

dbSNP: rs1561601398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000723180 SCV002235965 pathogenic not provided 2022-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile980Tyrfs*7) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPLANE1 are known to be pathogenic (PMID: 24178751, 26092869). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 591997). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002485844 SCV002787258 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-10-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003492155 SCV004240993 pathogenic Joubert syndrome and related disorders 2023-12-12 criteria provided, single submitter clinical testing Variant summary: CPLANE1 c.2937dupT (p.Ile980TyrfsX7) 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. The variant was absent in 156962 control chromosomes. To our knowledge, no occurrence of c.2937dupT in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Gharavi Laboratory, Columbia University RCV000723180 SCV000854311 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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