ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.349G>A (p.Ala117Thr)

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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 RCV003090594 SCV003488516 uncertain significance Gingival disorder 2022-07-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 117 of the FPR1 protein (p.Ala117Thr). This variant is present in population databases (rs547228145, gnomAD 0.007%). 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.

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