ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.436A>G (p.Ile146Val)

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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 RCV003874409 SCV004681284 uncertain significance Gingival disorder 2023-09-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs756459168, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 146 of the FPR1 protein (p.Ile146Val). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. 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 valine 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 RCV004369630 SCV004872659 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing The c.436A>G (p.I146V) alteration is located in exon 2 (coding exon 1) of the FPR1 gene. This alteration results from a A to G substitution at nucleotide position 436, causing the isoleucine (I) at amino acid position 146 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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