ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1199G>A (p.Arg400Gln)

dbSNP: rs574135774
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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 RCV001368078 SCV001564456 uncertain significance Nephronophthisis 14 2022-06-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1058891). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 392 of the ZNF423 protein (p.Arg392Gln).

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