Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000805309 | SCV000945260 | uncertain significance | Cataract 18 | 2018-10-18 | 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FYCO1-related disease. This variant is present in population databases (rs141828619, ExAC 0.1%). This sequence change replaces arginine with tryptophan at codon 513 of the FYCO1 protein (p.Arg513Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
| Ambry Genetics | RCV004028214 | SCV004874419 | uncertain significance | Inborn genetic diseases | 2024-01-23 | criteria provided, single submitter | clinical testing | The c.1537C>T (p.R513W) alteration is located in exon 8 (coding exon 7) of the FYCO1 gene. This alteration results from a C to T substitution at nucleotide position 1537, causing the arginine (R) at amino acid position 513 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |