ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.5794-3C>G

gnomAD frequency: 0.00006  dbSNP: rs776617795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177919 SCV000229880 uncertain significance not provided 2014-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177919 SCV001537392 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing This sequence change falls in intron 36 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 (rs776617795, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with PRPF8-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 197012). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002485162 SCV002777522 uncertain significance Retinitis pigmentosa 13 2021-09-20 criteria provided, single submitter clinical testing

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