ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.769G>T (p.Gly257Ter) (rs1555530173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519337 SCV000618675 pathogenic not provided 2017-07-03 criteria provided, single submitter clinical testing The G257X pathogenic variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The G257X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret G257X as a pathogenic variant.

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