ClinVar Miner

Submissions for variant NM_001029882.3(AHDC1):c.2773C>T (p.Arg925Ter) (rs777736953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590880 SCV000700162 likely pathogenic Abdominal obesity-metabolic syndrome 3 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV001008670 SCV001168449 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing Observed de novo without confirmed parentage in multiple unrelated patients with features of Xia-Gibbs syndrome in published literature (Jiang et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)

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