ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1492G>C (p.Ala498Pro)

dbSNP: rs771331763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871017 SCV002135891 uncertain significance Nephronophthisis 14 2022-07-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1370508). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 490 of the ZNF423 protein (p.Ala490Pro).

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