Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226462 | SCV001398775 | uncertain significance | Nephronophthisis 15 | 2019-08-28 | 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 methionine 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 CEP164-related conditions. This variant is present in population databases (rs748619597, ExAC 0.02%). This sequence change replaces valine with methionine at codon 167 of the CEP164 protein (p.Val167Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. |
Fulgent Genetics, |
RCV001226462 | SCV002791751 | uncertain significance | Nephronophthisis 15 | 2022-05-04 | criteria provided, single submitter | clinical testing |