ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu)

dbSNP: rs1589233127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261999 SCV002542785 uncertain significance Autoinflammatory syndrome 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095920 SCV002969053 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2022-02-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This missense change has been observed in individual(s) with familial hemophagocytic lymphohistiocytosis (PMID: 32638196). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 161 of the PRF1 protein (p.Lys161Glu). This variant is not present in population databases (gnomAD no frequency).

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