Submissions for variant NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Leipzig Medical Center	RCV003494078	SCV004242464	likely pathogenic	Coffin-Siris syndrome 1	2023-12-11	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM2_SUP
GeneDx	RCV004719336	SCV005326003	pathogenic	not provided	2023-12-23	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV004719336	SCV005788484	pathogenic	not provided	2024-08-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr358Serfs*186) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 25674384, 30349098). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. For these reasons, this variant has been classified as Pathogenic.