Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237837 | SCV001410618 | uncertain significance | Nephronophthisis 15 | 2022-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 260 of the CEP164 protein (p.Thr260Lys). This variant is present in population databases (rs776372232, gnomAD 0.01%). 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: 963763). 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: "Benign"; 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. |
Ambry Genetics | RCV002563900 | SCV003674166 | uncertain significance | Inborn genetic diseases | 2022-12-14 | criteria provided, single submitter | clinical testing | The c.779C>A (p.T260K) alteration is located in exon 9 (coding exon 7) of the CEP164 gene. This alteration results from a C to A substitution at nucleotide position 779, causing the threonine (T) at amino acid position 260 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001237837 | SCV003831573 | uncertain significance | Nephronophthisis 15 | 2022-06-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003159194 | SCV003852822 | uncertain significance | not provided | 2022-09-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |