ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) (rs797045277)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000416951 SCV000246523 likely pathogenic Coffin-Siris syndrome 1 2014-12-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415059 SCV000492573 uncertain significance Seizures; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 2015-12-29 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000416951 SCV000494583 pathogenic Coffin-Siris syndrome 1 2017-01-12 criteria provided, single submitter research
GeneDx RCV000657879 SCV000779641 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing The c.4110 G>A variant in the ARID1B gene has been reported previously as a de novo variant in individuals with cognitive disabilities, craniofacial differences, and other anomalies consistent with an ARID1B-related disorder (Hoyer et al., 2012; Mignot et al., 2016). Further studies indicated that c.4110 G>A affects the splice donor site and induces skipping of exon 17 causing a frameshift leading to a premature Stop codon (p.Arg1338ArgfsX76) (Hoyer et al., 2016). The c.4110 G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4110 G>A as a pathogenic variant.
OMIM RCV000416951 SCV000902412 pathogenic Coffin-Siris syndrome 1 2012-03-09 no assertion criteria provided literature only

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