ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.742G>A (p.Gly248Arg)

gnomAD frequency: 0.00001  dbSNP: rs764722375
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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 RCV001206772 SCV001378098 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 248 of the PRF1 protein (p.Gly248Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs764722375, ExAC 0.003%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 29665027). 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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