ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) (rs1364690005)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579355 SCV000680950 pathogenic not provided 2017-12-04 criteria provided, single submitter clinical testing The R1363X variant in the ANKRD11 gene has been reported previously as a de novo variant in an individual with KBG syndrome (Goldenberg et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1363X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1363X as a pathogenic.

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