ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2569G>A (p.Ala857Thr)

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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 RCV003064959 SCV003452742 uncertain significance Nephronophthisis 14 2022-08-13 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs370557417, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 849 of the ZNF423 protein (p.Ala849Thr).
Ambry Genetics RCV004070362 SCV004984218 uncertain significance not specified 2023-09-20 criteria provided, single submitter clinical testing The c.2545G>A (p.A849T) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a G to A substitution at nucleotide position 2545, causing the alanine (A) at amino acid position 849 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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