ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)

dbSNP: rs929007085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995491 SCV001149679 pathogenic KBG syndrome 2019-08-16 criteria provided, single submitter clinical testing
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV000995491 SCV002574806 pathogenic KBG syndrome 2022-09-22 criteria provided, single submitter clinical testing
Invitae RCV000995491 SCV004296429 pathogenic KBG syndrome 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg906*) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ANKRD11-related conditions (PMID: 26633542). ClinVar contains an entry for this variant (Variation ID: 807371). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV003151261 SCV003839648 likely pathogenic not provided 2022-10-31 no assertion criteria provided clinical testing DNA sequence analysis of the ANKRD11 gene demonstrated a sequence change, c.2716C>T, which results in the creation of a premature stop codon at amino acid position 906, p.ARG906*. This likely pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated ANKRD11 protein with potentially abnormal function. This sequence change does not appear to have been previously described in population databases such as ExAC and gnomAD. This likely pathogenic sequence change has been described in one individual with multiple congenital anomalies, however, no additional phenotypic or inheritance information was provided (PMID: 26633542). Other truncating variants in the ANKRD11 gene have been reported in individuals with ANKRD11-related disorders (PMID: 31191201, 32124548). This likely pathogenic sequence change is the most likely cause of this individual's phenotype

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