ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3316C>T (p.Arg1106Cys)

gnomAD frequency: 0.00004  dbSNP: rs202013818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246106 SCV001419444 uncertain significance Nephronophthisis 14 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1098 of the ZNF423 protein (p.Arg1098Cys). This variant is present in population databases (rs202013818, gnomAD 0.1%). 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: 970524). 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 RCV004034853 SCV004984224 uncertain significance not specified 2023-09-25 criteria provided, single submitter clinical testing Does not currently meet published gene-disease clinical validity criteria Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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