ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1096G>A (p.Asp366Asn)

gnomAD frequency: 0.00001  dbSNP: rs760969654
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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 RCV000690669 SCV000818368 uncertain significance Nephronophthisis 14 2018-02-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 358 of the ZNF423 protein (p.Asp358Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs760969654, ExAC 0.02%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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