ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.5570+5G>A

dbSNP: rs1561516534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298606 SCV001487667 likely pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the CPLANE1 gene. It does not directly change the encoded amino acid sequence of the CPLANE1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of C5orf42-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 583208). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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