ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.982T>C (p.Ser328Pro)

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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 RCV003068619 SCV003455030 uncertain significance Gingival disorder 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 328 of the FPR1 protein (p.Ser328Pro). This variant has not been reported in the literature in individuals affected with FPR1-related conditions. This variant is not present in population databases (gnomAD no frequency). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Ambry Genetics RCV004070451 SCV003718039 uncertain significance not specified 2022-12-06 criteria provided, single submitter clinical testing The c.982T>C (p.S328P) alteration is located in exon 2 (coding exon 1) of the FPR1 gene. This alteration results from a T to C substitution at nucleotide position 982, causing the serine (S) at amino acid position 328 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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