ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.434+3G>A

gnomAD frequency: 0.00005  dbSNP: rs372997528
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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 RCV001210315 SCV001381798 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing 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 (rs372997528, gnomAD 0.009%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 34996991). ClinVar contains an entry for this variant (Variation ID: 940680). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant does not affect mRNA splicing (PMID: 34996991). 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.

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