ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.563dup (p.Leu189fs)

dbSNP: rs1454231642
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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 RCV001996660 SCV002225042 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2023-05-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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.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. ClinVar contains an entry for this variant (Variation ID: 1446910). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. This sequence change creates a premature translational stop signal (p.Leu189Alafs*4) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 367 amino acid(s) of the PRF1 protein.
Baylor Genetics RCV003471102 SCV004206487 likely pathogenic Aplastic anemia 2023-11-26 criteria provided, single submitter clinical testing

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