ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002876584 SCV003237585 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2022-09-22 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.Asp491Asn) have been determined to be pathogenic (PMID: 24390453, 25577959, 33746956). 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.Leu478*) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acid(s) of the PRF1 protein.
Baylor Genetics RCV004571410 SCV005052454 likely pathogenic Aplastic anemia 2024-02-24 criteria provided, single submitter clinical testing

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