Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234963 | SCV001580922 | pathogenic | KBG syndrome | 2020-07-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly2006Argfs*26) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of KBG syndrome (PMID: 27900361). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 242976). Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). For these reasons, this variant has been classified as Pathogenic. |
Lyon Laboratory, |
RCV000234963 | SCV000292225 | pathogenic | KBG syndrome | no assertion criteria provided | research |