ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.824A>C (p.Glu275Ala)

gnomAD frequency: 0.00004  dbSNP: rs763119215
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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 RCV001941272 SCV002208276 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 275 of the PRF1 protein (p.Glu275Ala). This variant is present in population databases (rs763119215, gnomAD 0.004%). 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: 1432456). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PRF1 protein function with a negative predictive value of 95%. 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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