ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.591G>A (p.Met197Ile)

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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 RCV002602621 SCV003493357 uncertain significance Gingival disorder 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 197 of the FPR1 protein (p.Met197Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2176439). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004068779 SCV003671343 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.591G>A (p.M197I) alteration is located in exon 2 (coding exon 1) of the FPR1 gene. This alteration results from a G to A substitution at nucleotide position 591, causing the methionine (M) at amino acid position 197 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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