ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His)

dbSNP: rs2151116846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765789 SCV001999434 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004758825 SCV005356286 uncertain significance PRPF8-related disorder 2024-06-28 no assertion criteria provided clinical testing The PRPF8 c.3893G>A variant is predicted to result in the amino acid substitution p.Arg1298His. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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