ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser)

gnomAD frequency: 0.00007  dbSNP: rs143043887
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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 RCV002262003 SCV002542798 uncertain significance Autoinflammatory syndrome 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV003095921 SCV003519292 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 270 of the PRF1 protein (p.Gly270Ser). This variant is present in population databases (rs143043887, gnomAD 0.04%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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