ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.367C>T (p.Arg123Cys)

gnomAD frequency: 0.00001  dbSNP: rs764940294
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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 RCV001922654 SCV002175318 uncertain significance Gingival disorder 2022-07-14 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1398802). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is present in population databases (rs764940294, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 123 of the FPR1 protein (p.Arg123Cys).

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