Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001306439 | SCV001495811 | uncertain significance | Nephronophthisis 14 | 2022-02-08 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 910 of the ZNF423 protein (p.Asn910Ser). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. ClinVar contains an entry for this variant (Variation ID: 1009015). 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"). |
| Ambry Genetics | RCV004686654 | SCV005182326 | uncertain significance | not specified | 2024-05-10 | criteria provided, single submitter | clinical testing | The c.2729A>G (p.N910S) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a A to G substitution at nucleotide position 2729, causing the asparagine (N) at amino acid position 910 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |