ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV003388945 SCV003927978 likely pathogenic KBG syndrome 2022-07-27 criteria provided, single submitter clinical testing ACMG/AMP: PVS1,PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003388945 SCV004512771 pathogenic KBG syndrome 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2328*) 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 variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 2503459). For these reasons, this variant has been classified as Pathogenic.

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