ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.145+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1413177096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366978 SCV001563306 uncertain significance Joubert syndrome 15 2021-04-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with skipping of exon 3 but is expected to preserve the integrity of the reading frame (PMID: 21438139). This variant has not been reported in the literature in individuals with CEP41-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the CEP41 gene. It does not directly change the encoded amino acid sequence of the CEP41 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.

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