ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3304G>A (p.Gly1102Ser)

gnomAD frequency: 0.00060  dbSNP: rs139931382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061806 SCV001226564 uncertain significance Nephronophthisis 14 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1094 of the ZNF423 protein (p.Gly1094Ser). This variant is present in population databases (rs139931382, gnomAD 0.09%). 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: 856362). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZNF423 protein function. 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 RCV004030435 SCV003586815 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The c.3280G>A (p.G1094S) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a G to A substitution at nucleotide position 3280, causing the glycine (G) at amino acid position 1094 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.