ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985168 SCV004801479 likely pathogenic KBG syndrome 2019-02-25 criteria provided, single submitter clinical testing The ANKRD11 c.5558dupC p.(Asp1854ArgfsTer96) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. Based on the available evidence, the c.5558dupC p.(Asp1854ArgfsTer96) variant is classified as likely pathogenic for KBG syndrome.

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