ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3209A>C (p.Lys1070Thr)

dbSNP: rs1197947777
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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 RCV000824216 SCV000965105 uncertain significance Nephronophthisis 14 2018-10-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 1062 of the ZNF423 protein (p.Lys1062Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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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