ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.433del (p.Ser145fs)

dbSNP: rs1772907934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265912 SCV001444084 pathogenic Inborn genetic diseases 2019-12-19 criteria provided, single submitter clinical testing The alteration results in a premature stop codon: _x000D_ _x000D_ The c.433delA (p.S145Afs*7) alteration, located in coding exon 4 of the ZNF292 gene, results from a deletion of one nucleotide at position 433, causing a translational frameshift with a predicted alternate stop codon after 7 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001261694 SCV001439003 likely pathogenic Neurodevelopmental disorder no assertion criteria provided research

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