ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu)

gnomAD frequency: 0.00011  dbSNP: rs112570445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245541 SCV001418836 uncertain significance Nephronophthisis 14 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 390 of the ZNF423 protein (p.Pro390Leu). This variant is present in population databases (rs112570445, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. ClinVar contains an entry for this variant (Variation ID: 970043). 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"). 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.
Ambry Genetics RCV002568625 SCV003717143 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.1169C>T (p.P390L) 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 1169, causing the proline (P) at amino acid position 390 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001245541 SCV003821837 uncertain significance Nephronophthisis 14 2022-10-20 criteria provided, single submitter clinical testing

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