Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002012694 | SCV002286178 | uncertain significance | Nephronophthisis 15 | 2023-08-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1493642). 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. 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. This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs745904143, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1417 of the CEP164 protein (p.Arg1417Trp). |
Fulgent Genetics, |
RCV002012694 | SCV002788167 | uncertain significance | Nephronophthisis 15 | 2024-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004045414 | SCV004925811 | uncertain significance | Inborn genetic diseases | 2024-02-13 | criteria provided, single submitter | clinical testing | The c.4249C>T (p.R1417W) alteration is located in exon 32 (coding exon 30) of the CEP164 gene. This alteration results from a C to T substitution at nucleotide position 4249, causing the arginine (R) at amino acid position 1417 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |