ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2771A>G (p.Asp924Gly)

gnomAD frequency: 0.00004  dbSNP: rs765351644
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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 RCV001864767 SCV002124503 uncertain significance Nephronophthisis 14 2021-01-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ZNF423-related conditions. This variant is present in population databases (rs765351644, ExAC 0.002%). This sequence change replaces aspartic acid with glycine at codon 916 of the ZNF423 protein (p.Asp916Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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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