ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447764 SCV004175495 likely pathogenic Familial hemophagocytic lymphohistiocytosis 2 2023-06-01 criteria provided, single submitter clinical testing The PRF1 c.1284G>A variant is classified as Likely Pathogenic (PVS1, PM2) The PRF1 c.1284G>A variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 428, terminating a significant portion of the wildtype protein (PVS1). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD (2023.1). It has not been reported in the scientific literature to date.

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