ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) (rs797045283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735324 SCV000854478 pathogenic Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus criteria provided, single submitter clinical testing
GeneDx RCV000523275 SCV000617284 pathogenic not provided 2018-05-30 criteria provided, single submitter clinical testing The R1990X variant in the ARID1B gene has been reported multiple times previously in association with Coffin-Siris syndrome, including as a de novo change in two patients (Santen et al., 2013; Mignot et al., 2016). This variant is predicted to cause loss of normal protein function through protein truncation as the last 260 amino acids of the ARID1B protein are lost. The R1990X variant is not observed in large population cohorts (Lek et al., 2016).
Genetic Services Laboratory, University of Chicago RCV000194737 SCV000246538 pathogenic Coffin-Siris syndrome 1 2014-10-31 criteria provided, single submitter clinical testing

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