ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.706C>T (p.Leu236Phe)

gnomAD frequency: 0.00001  dbSNP: rs1373180931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814782 SCV002061598 uncertain significance not provided 2021-09-22 criteria provided, single submitter clinical testing PM2, PM3_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV002541498 SCV003248806 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 236 of the PRF1 protein (p.Leu236Phe). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. 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.

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