ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.445C>T (p.Pro149Ser)

gnomAD frequency: 0.00004  dbSNP: rs376781635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920168 SCV002162520 uncertain significance Gingival disorder 2022-11-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 149 of the FPR1 protein (p.Pro149Ser). 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: 1397266). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is present in population databases (rs376781635, gnomAD 0.004%).
Ambry Genetics RCV004616846 SCV005118738 uncertain significance not specified 2024-04-12 criteria provided, single submitter clinical testing The c.445C>T (p.P149S) alteration is located in exon 2 (coding exon 1) of the FPR1 gene. This alteration results from a C to T substitution at nucleotide position 445, causing the proline (P) at amino acid position 149 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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