ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.548G>A (p.Trp183Ter)

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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 RCV003840848 SCV004642862 uncertain significance Gingival disorder 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp183*) in the FPR1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 168 amino acid(s) of the FPR1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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