ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.376A>T (p.Met126Leu)

dbSNP: rs150427822
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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 RCV002024443 SCV002315914 uncertain significance Nephronophthisis 14 2022-10-24 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: 1519217). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs150427822, gnomAD 0.002%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 118 of the ZNF423 protein (p.Met118Leu).

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