ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)

gnomAD frequency: 0.00001  dbSNP: rs763002067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544869 SCV000644895 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 306 of the PRF1 protein (p.Gly306Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs763002067, ExAC 0.006%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 17606450, 22249210, 25233452, 26739415). 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 disruptive. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261113 SCV002542806 likely pathogenic Autoinflammatory syndrome 2017-01-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003476294 SCV004204201 likely pathogenic Aplastic anemia 2023-08-24 criteria provided, single submitter clinical testing

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