ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3176C>T (p.Ala1059Val)

gnomAD frequency: 0.00006  dbSNP: rs750497057
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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 RCV001214692 SCV001386387 uncertain significance Nephronophthisis 14 2019-06-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1051 of the ZNF423 protein (p.Ala1051Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs750497057, ExAC 0.1%). This variant has not been reported in the literature in individuals 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: "Benign"; 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.
PreventionGenetics, part of Exact Sciences RCV004751922 SCV005363687 uncertain significance ZNF423-related disorder 2024-04-02 no assertion criteria provided clinical testing The ZNF423 c.3152C>T variant is predicted to result in the amino acid substitution p.Ala1051Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of European (Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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