ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.827A>G (p.Tyr276Cys)

dbSNP: rs1555796364
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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 RCV002234398 SCV000752035 uncertain significance Gingival disorder 2017-12-03 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FPR1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 276 of the FPR1 protein (p.Tyr276Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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