Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002592253 | SCV003500656 | uncertain significance | Nephronophthisis 14 | 2022-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1055 of the ZNF423 protein (p.Pro1055Arg). This variant is present in population databases (rs762599061, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. 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: "Possibly 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. |
Ambry Genetics | RCV004068984 | SCV003886104 | uncertain significance | not specified | 2023-03-13 | criteria provided, single submitter | clinical testing | The c.3164C>G (p.P1055R) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a C to G substitution at nucleotide position 3164, causing the proline (P) at amino acid position 1055 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |