ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3035T>C (p.Ile1012Thr)

gnomAD frequency: 0.00001  dbSNP: rs368801417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917687 SCV002171816 uncertain significance Nephronophthisis 14 2021-11-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1004 of the ZNF423 protein (p.Ile1004Thr). This variant is present in population databases (rs368801417, gnomAD 0.007%). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ZNF423-related conditions.

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