ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)

dbSNP: rs1779035528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001972373 SCV002237684 pathogenic not provided 2023-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2345Serfs*46) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1456393). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002484800 SCV002783338 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-10-15 criteria provided, single submitter clinical testing

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