ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.3039del (p.Asn1013fs)

dbSNP: rs2151127334
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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 RCV002018800 SCV002261490 pathogenic not provided 2024-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1013Lysfs*10) in the PRPF8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPF8 are known to be pathogenic (PMID: 27208204, 31054281, 33946315). 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. ClinVar contains an entry for this variant (Variation ID: 1477669). For these reasons, this variant has been classified as Pathogenic.

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