ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.524C>T (p.Ala175Val)

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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 RCV003764389 SCV004550011 uncertain significance Gingival disorder 2023-04-22 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 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. This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is present in population databases (rs781400810, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 175 of the FPR1 protein (p.Ala175Val).
PreventionGenetics, part of Exact Sciences RCV004757611 SCV005351735 uncertain significance FPR1-related disorder 2024-04-18 no assertion criteria provided clinical testing The FPR1 c.524C>T variant is predicted to result in the amino acid substitution p.Ala175Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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