ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.851A>G (p.Asp284Gly)

dbSNP: rs757217120
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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 RCV002014956 SCV002264472 uncertain significance Gingival disorder 2022-08-19 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 1476955). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is present in population databases (rs757217120, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 284 of the FPR1 protein (p.Asp284Gly).

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