ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.877C>T (p.Arg293Cys)

gnomAD frequency: 0.00004  dbSNP: rs201388998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203722 SCV001374898 uncertain significance Nephronophthisis 14 2022-08-09 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 935182). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs201388998, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 285 of the ZNF423 protein (p.Arg285Cys).
Ambry Genetics RCV004033583 SCV004057144 uncertain significance not specified 2023-07-19 criteria provided, single submitter clinical testing The c.853C>T (p.R285C) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a C to T substitution at nucleotide position 853, causing the arginine (R) at amino acid position 285 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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