ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2669C>T (p.Ser890Leu)

gnomAD frequency: 0.00006  dbSNP: rs777639594
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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 RCV000703802 SCV000832721 uncertain significance Nephronophthisis 14 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 882 of the ZNF423 protein (p.Ser882Leu). This variant is present in population databases (rs777639594, gnomAD 0.02%). 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: 580310). 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 C15"). 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.

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