ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.806A>C (p.His269Pro)

dbSNP: rs761293997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948000 SCV002189507 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2021-11-15 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with PRF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 269 of the PRF1 protein (p.His269Pro).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699555 SCV005204744 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing

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