ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1267C>T (p.Gln423Ter)

gnomAD frequency: 0.00001  dbSNP: rs768953378
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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 RCV001963228 SCV002246614 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln423*) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 133 amino acid(s) of the PRF1 protein. This variant is present in population databases (rs768953378, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1460060). This variant disrupts a region of the PRF1 protein in which other variant(s) (p.Gln446Pro) have been determined to be pathogenic (PMID: 25326637, 26450956). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571751 SCV005052451 likely pathogenic Aplastic anemia 2024-03-16 criteria provided, single submitter clinical testing

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