ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs)

dbSNP: rs1555529181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660535 SCV000782638 pathogenic KBG syndrome 2017-03-16 criteria provided, single submitter clinical testing
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV000660535 SCV002562765 pathogenic KBG syndrome criteria provided, single submitter clinical testing KBG syndrome
Illumina Laboratory Services, Illumina RCV000660535 SCV004014648 pathogenic KBG syndrome 2022-12-21 criteria provided, single submitter clinical testing The ANKRD11 c.2404_2407del (p.Leu802LysfsTer60) variant results in the deletion of four nucleotides at position c. 2404-2407, causing 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. This variant has been reported in one affected individual in a de novo state, however clinical details were not specified (PMID: 33144682). This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.2404_2407del (p.Leu802LysfsTer60) variant is classified pathogenic for KBG syndrome.

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