ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.1609G>A (p.Val537Met) (rs184458982)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488174 SCV000575064 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000488174 SCV000703606 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000413275 SCV000491492 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing The V537M variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The 1000 Genomes Project reports V537M was observed in 3/1006 alleles (0.03%) from individuals of European background. The V537M variant is a conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V537M as a variant of uncertain significance.

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