ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.823A>G (p.Met275Val)

dbSNP: rs2083742597
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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 RCV002241311 SCV001396411 uncertain significance Gingival disorder 2019-05-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 275 of the FPR1 protein (p.Met275Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant has not been reported in the literature in individuals with FPR1-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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