ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.6473_6474del (p.His2158fs)

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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 RCV003026389 SCV003323344 pathogenic not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His2158Profs*9) 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: 2106271). For these reasons, this variant has been classified as Pathogenic.

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