ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.133G>A (p.Gly45Arg)

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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 RCV003112099 SCV003786350 uncertain significance Gingival disorder 2023-07-31 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2418855). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is present in population databases (rs754359145, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 45 of the FPR1 protein (p.Gly45Arg).

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