ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)

dbSNP: rs747815682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894968 SCV002129893 pathogenic not provided 2021-04-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2160Valfs*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 present in population databases (rs747815682, ExAC 0.003%). This variant has not been reported in the literature in individuals with CPLANE1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002490050 SCV002802669 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2022-03-31 criteria provided, single submitter clinical testing

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