ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) (rs1554237658)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578816 SCV000680499 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing The R1926X variant in the ARID1B gene has been reported previously as a de novo variant in an individual with intellectual disability and agenesis of the corpus callosum (Mignot et al., 2016). This variant is predicted to cause loss of normal protein function through protein truncation. The R1926X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1926X as a pathogenic variant.
Ambry Genetics RCV000622953 SCV000742414 pathogenic Inborn genetic diseases 2017-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625417 SCV000745308 pathogenic Coffin-Siris syndrome 1 2015-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000625417 SCV000807357 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory as a de novo finding in a 9-year-old female with intellectual disability, dysmorphic features, hyperextensibility, hirsutism, callosal dysgenesis.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625417 SCV000745860 pathogenic Coffin-Siris syndrome 1 2014-10-24 no assertion criteria provided clinical testing

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