Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001934312 | SCV002213120 | uncertain significance | Cataract 18 | 2021-11-04 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with FYCO1-related conditions. This variant is present in population databases (rs377256529, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1368 of the FYCO1 protein (p.Phe1368Leu). |
| Ambry Genetics | RCV002562156 | SCV003544088 | uncertain significance | Inborn genetic diseases | 2021-12-20 | criteria provided, single submitter | clinical testing | The c.4104T>G (p.F1368L) alteration is located in exon 16 (coding exon 15) of the FYCO1 gene. This alteration results from a T to G substitution at nucleotide position 4104, causing the phenylalanine (F) at amino acid position 1368 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |