ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) (rs1554236040)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000677116 SCV000807355 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 4-year-old male with global delays, dysmorphic features, macrocephaly, partial agenesis of corpus callosum, PFO, hirsutism.
GeneDx RCV000599263 SCV000710040 pathogenic not provided 2018-01-18 criteria provided, single submitter clinical testing The R1624X variant in the ARID1B gene has been reported previously in an individual with a clinical suspicion for mucopolysaccharidosis (Al-Shamsi et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1624X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1624X as a pathogenic variant.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000677116 SCV000803188 pathogenic Coffin-Siris syndrome 1 2018-07-03 criteria provided, single submitter research

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