ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3691G>A (p.Glu1231Lys)

gnomAD frequency: 0.00001  dbSNP: rs752885477
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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 RCV001067451 SCV001232516 uncertain significance Nephronophthisis 14 2022-02-10 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 861031). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs752885477, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1223 of the ZNF423 protein (p.Glu1223Lys).

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