Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002024389 | SCV002308734 | uncertain significance | Nephronophthisis 15 | 2024-09-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 635 of the CEP164 protein (p.Arg635Gln). This variant is present in population databases (rs763183525, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 1519144). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CEP164 protein function with a negative predictive value of 80%. 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, |
RCV002024389 | SCV002776193 | uncertain significance | Nephronophthisis 15 | 2021-12-22 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004753477 | SCV005361264 | uncertain significance | CEP164-related disorder | 2024-08-14 | no assertion criteria provided | clinical testing | The CEP164 c.1904G>A variant is predicted to result in the amino acid substitution p.Arg635Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |