ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.205C>T (p.Pro69Ser)

dbSNP: rs1848215226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371164 SCV001567721 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 69 of the PRF1 protein (p.Pro69Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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