ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.435-3C>T

dbSNP: rs112242959
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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 RCV002019922 SCV002292069 uncertain significance not provided 2023-08-04 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. 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 is not likely to affect RNA splicing. This sequence change falls in intron 4 of the PRPF8 gene. It does not directly change the encoded amino acid sequence of the PRPF8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs112242959, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PRPF8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1501798).

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