ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1903A>G (p.Ile635Val)

gnomAD frequency: 0.00017  dbSNP: rs142414666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067692 SCV001232763 uncertain significance Nephronophthisis 14 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 627 of the ZNF423 protein (p.Ile627Val). This variant is present in population databases (rs142414666, 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: 861217). 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004030656 SCV003691058 uncertain significance not specified 2022-05-27 criteria provided, single submitter clinical testing The c.1879A>G (p.I627V) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a A to G substitution at nucleotide position 1879, causing the isoleucine (I) at amino acid position 627 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004751873 SCV005348868 uncertain significance ZNF423-related disorder 2024-04-29 no assertion criteria provided clinical testing The ZNF423 c.1879A>G variant is predicted to result in the amino acid substitution p.Ile627Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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