ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.570C>A (p.His190Gln)

gnomAD frequency: 0.00004  dbSNP: rs764108625
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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 RCV000693964 SCV000822388 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 190 of the PRF1 protein (p.His190Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs764108625, ExAC 0.002%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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