ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471740 SCV004206501 likely pathogenic Aplastic anemia 2022-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003626871 SCV004402410 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2023-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRF1 protein in which other variant(s) (p.Thr435Met) have been determined to be pathogenic (PMID: 15728124, 18927437, 19487666, 25233452, 32542393). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PRF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp425*) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 131 amino acid(s) of the PRF1 protein.

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