ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.198C>A (p.Asn66Lys)

gnomAD frequency: 0.00003  dbSNP: rs371282377
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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 RCV003596609 SCV000958044 uncertain significance Gingival disorder 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 66 of the FPR1 protein (p.Asn66Lys). This variant is present in population databases (rs371282377, gnomAD 0.0009%). 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: 660315). 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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