ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.371C>T (p.Thr124Met)

dbSNP: rs376833288
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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 RCV000650249 SCV000772089 uncertain significance Nephronophthisis 14 2017-12-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 116 of the ZNF423 protein (p.Thr116Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs376833288, ExAC 0.01%). This variant has not been reported in the literature in individuals with ZNF423-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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