ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) (rs1057524114)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438911 SCV000534593 pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing Reported in individuals with features of Stickler syndrome in published literature and segregated with disease in one relative from one family (Kondo et al., 2016; Maddirevula et al., 2018; Zhou et al., 2018); Not observed in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 27408751, 29620724, 29453956, 33502061)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526694 SCV001737115 pathogenic Stickler syndrome type 1 criteria provided, single submitter clinical testing

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