ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3454C>T (p.Arg1152Cys)

gnomAD frequency: 0.00003  dbSNP: rs774292686
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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 RCV001306623 SCV001496004 uncertain significance Nephronophthisis 14 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1144 of the ZNF423 protein (p.Arg1144Cys). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1009172). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs774292686, gnomAD 0.009%).

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