ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2531C>T (p.Ala844Val)

gnomAD frequency: 0.00032  dbSNP: rs201213567
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064023 SCV001228896 uncertain significance Nephronophthisis 14 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 836 of the ZNF423 protein (p.Ala836Val). This variant is present in population databases (rs201213567, gnomAD 0.06%). 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: 858197). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZNF423 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813676 SCV005070776 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813675 SCV005073500 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751871 SCV005348981 uncertain significance ZNF423-related disorder 2024-05-04 no assertion criteria provided clinical testing The ZNF423 c.2507C>T variant is predicted to result in the amino acid substitution p.Ala836Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% 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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