ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.255G>T (p.Glu85Asp)

gnomAD frequency: 0.00001  dbSNP: rs755507056
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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 RCV001870216 SCV002120940 uncertain significance Nephronophthisis 14 2021-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 77 of the ZNF423 protein (p.Glu77Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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. This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs755507056, ExAC 0.02%).

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