ClinVar Miner

Submissions for variant NM_001271620.2(ZNF423):c.2071C>T (p.Arg691Cys) (rs757246232)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800134 SCV000939834 uncertain significance Nephronophthisis 14 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 751 of the ZNF423 protein (p.Arg751Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs757246232, ExAC 0.02%). This variant has not been reported in the literature in individuals with ZNF423-related conditions. 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 C1). 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. 5
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171328 SCV001328275 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP2, PP3

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