ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3739G>A (p.Val1247Ile)

gnomAD frequency: 0.00004  dbSNP: rs911470655
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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 RCV001879700 SCV002144591 uncertain significance Nephronophthisis 14 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1239 of the ZNF423 protein (p.Val1239Ile). This variant is present in population databases (no rsID available, gnomAD 0.05%). 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: 1375504). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV003395253 SCV004119906 uncertain significance ZNF423-related disorder 2023-06-23 criteria provided, single submitter clinical testing The ZNF423 c.3715G>A variant is predicted to result in the amino acid substitution p.Val1239Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.046% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-49557645-C-T). 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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