ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter)

dbSNP: rs1589233357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826212 SCV000967778 likely pathogenic Familial hemophagocytic lymphohistiocytosis 2019-01-04 criteria provided, single submitter clinical testing The p.Gln86X variant in PRF1 has not been previously reported in individuals wit h hemophagocytic lymphohistiocytosis (HLH) and was absent from large population studies. This nonsense variant leads to a premature termination codon at positio n 86, which is predicted to lead to a truncated or absent protein. Loss of funct ion of the PRF1 gene is an established disease mechanism in autosomal recessive HLH. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely p athogenic for autosomal recessive HLH. ACMG/AMP Criteria applied: PVS1, PM2.

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