ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.139G>T (p.Val47Leu)

gnomAD frequency: 0.00001  dbSNP: rs759165021
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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 RCV001952305 SCV002193982 uncertain significance Gingival disorder 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 47 of the FPR1 protein (p.Val47Leu). This variant is present in population databases (rs759165021, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1418814). 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. 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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