ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1597G>C (p.Gly533Arg)

gnomAD frequency: 0.00002  dbSNP: rs373356097
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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 RCV001912795 SCV002167943 uncertain significance Nephronophthisis 14 2022-06-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs373356097, gnomAD 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 525 of the ZNF423 protein (p.Gly525Arg).

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