ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.197A>C (p.Asp66Ala)

gnomAD frequency: 0.00004  dbSNP: rs749243699
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212957 SCV001384569 uncertain significance Nephronophthisis 14 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 58 of the ZNF423 protein (p.Asp58Ala). This variant is present in population databases (rs749243699, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. ClinVar contains an entry for this variant (Variation ID: 942878). 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. 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.

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