Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995491 | SCV001149679 | pathogenic | KBG syndrome | 2019-08-16 | criteria provided, single submitter | clinical testing | |
Institute for Medical Genetics and Human Genetics, |
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, |
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 |