Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001039859 | SCV001203408 | uncertain significance | Nephronophthisis 14 | 2022-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 118 of the ZNF423 protein (p.Met118Val). This variant is present in population databases (rs150427822, gnomAD 0.01%). 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: 838330). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Revvity Omics, |
RCV001039859 | SCV003821836 | uncertain significance | Nephronophthisis 14 | 2022-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004031121 | SCV003862850 | uncertain significance | not specified | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.352A>G (p.M118V) 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 352, causing the methionine (M) at amino acid position 118 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Clinical Genetics Laboratory, |
RCV004697029 | SCV005199027 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing |