Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001365229 | SCV001561492 | uncertain significance | Fanconi anemia | 2022-01-17 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1056405). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (rs370347668, gnomAD 0.005%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 30 of the FANCF protein (p.Thr30Ser). |
| Fulgent Genetics, |
RCV002504599 | SCV002816027 | uncertain significance | Fanconi anemia complementation group F | 2021-08-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004036935 | SCV004869866 | uncertain significance | Inborn genetic diseases | 2024-02-21 | criteria provided, single submitter | clinical testing | The c.89C>G (p.T30S) alteration is located in exon 1 (coding exon 1) of the FANCF gene. This alteration results from a C to G substitution at nucleotide position 89, causing the threonine (T) at amino acid position 30 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |