ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)

dbSNP: rs1794584714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002466652 SCV002762419 pathogenic not provided 2022-12-09 criteria provided, single submitter clinical testing Identified in a patient with features of Coffin-Siris syndrome in published literature, although familial segregation and specific clinical information were not provided (Santen et al., 2013); Frameshift variant predicted to result in protein truncation, as the last 16 amino acids are replaced with 6 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31785789, 23929686, 31526516)
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264729 SCV001442960 likely pathogenic Coffin-Siris syndrome 1 2020-04-03 no assertion criteria provided clinical testing

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