Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049495 | SCV001213545 | uncertain significance | Nephronophthisis 15 | 2023-06-27 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP164 protein function. ClinVar contains an entry for this variant (Variation ID: 846241). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs375184395, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1236 of the CEP164 protein (p.Ser1236Cys). 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. |
Fulgent Genetics, |
RCV001049495 | SCV002777363 | uncertain significance | Nephronophthisis 15 | 2022-05-13 | criteria provided, single submitter | clinical testing |