ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.542C>T (p.Ser181Leu)

gnomAD frequency: 0.00001  dbSNP: rs146075164
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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 RCV002235101 SCV000958227 uncertain significance Gingival disorder 2022-12-15 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 660454). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is present in population databases (rs146075164, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 181 of the FPR1 protein (p.Ser181Leu).

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