Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000794939 | SCV000934376 | uncertain significance | Nephronophthisis 15 | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 928 of the CEP164 protein (p.Glu928Asp). This variant is present in population databases (rs143446218, gnomAD 0.003%). 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: 641654). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV000794939 | SCV002786895 | uncertain significance | Nephronophthisis 15 | 2021-07-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002536989 | SCV003597571 | uncertain significance | Inborn genetic diseases | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.2784G>T (p.E928D) alteration is located in exon 22 (coding exon 20) of the CEP164 gene. This alteration results from a G to T substitution at nucleotide position 2784, causing the glutamic acid (E) at amino acid position 928 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |