ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.181G>A (p.Val61Met)

gnomAD frequency: 0.00001  dbSNP: rs1564725427
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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 RCV000694764 SCV000823222 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 61 of the PRF1 protein (p.Val61Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRF1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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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