ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)

gnomAD frequency: 0.00001  dbSNP: rs756742718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488930 SCV000576637 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing The P1148L variant in the ZNF423 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1148L variant is observed in 14/11518 (0.12%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P1148L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P1148L as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000650250 SCV000772090 likely benign Nephronophthisis 14 2023-12-05 criteria provided, single submitter clinical testing

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