ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.6946_6947dup (p.Asn2316fs)

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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 RCV003723247 SCV004501246 pathogenic not provided 2024-04-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PRPF8 gene (p.Asn2316Lysfs*44). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the PRPF8 protein and extend the protein by 23 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRPF8-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the PRPF8 protein in which other variant(s) (p.Tyr2334Asn) have been determined to be pathogenic (PMID: 20232351, 21378395, 28515276; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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