Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001926777 | SCV002206157 | uncertain significance | not provided | 2024-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1315 of the FN1 protein (p.Phe1315Leu). This variant is present in population databases (rs368426539, gnomAD 0.01%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with FN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425614). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV002560499 | SCV003537960 | uncertain significance | Inborn genetic diseases | 2022-11-10 | criteria provided, single submitter | clinical testing | The c.3945T>G (p.F1315L) alteration is located in exon 25 (coding exon 25) of the FN1 gene. This alteration results from a T to G substitution at nucleotide position 3945, causing the phenylalanine (F) at amino acid position 1315 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005016869 | SCV005648526 | uncertain significance | Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type | 2024-05-24 | criteria provided, single submitter | clinical testing |