ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.853G>A (p.Val285Met)

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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 RCV003764384 SCV004548658 uncertain significance Gingival disorder 2023-05-15 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 285 of the FPR1 protein (p.Val285Met). This variant has not been reported in the literature in individuals affected 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. 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 tolerated.

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