ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1196G>T (p.Gly399Val)

gnomAD frequency: 0.00002  dbSNP: rs749729753
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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 RCV002031174 SCV002310255 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 399 of the PRF1 protein (p.Gly399Val). This variant is present in population databases (rs749729753, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1521250). 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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