ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.161G>A (p.Arg54Gln)

gnomAD frequency: 0.00010  dbSNP: rs145808420
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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 RCV001905188 SCV002133368 uncertain significance Gingival disorder 2023-07-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1364000). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". 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. This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 54 of the FPR1 protein (p.Arg54Gln). This variant is present in population databases (rs145808420, gnomAD 0.02%).

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