ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.68C>T (p.Ser23Leu)

gnomAD frequency: 0.00001  dbSNP: rs377503772
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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 RCV001942484 SCV002128177 uncertain significance Nephronophthisis 14 2021-10-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs377503772, ExAC 0.002%). This sequence change replaces serine with leucine at codon 15 of the ZNF423 protein (p.Ser15Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. 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: "Benign"; Align-GVGD: "Class C0").

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