Submissions for variant NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)

dbSNP: rs1064793482

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000478760	SCV000566234	pathogenic	not provided	2019-09-25	criteria provided, single submitter	clinical testing	Nonsense 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30349098)
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	RCV003985791	SCV004801835	likely pathogenic	Coffin-Siris syndrome 1		criteria provided, single submitter	clinical testing	A previously undescribed nucleotide variant creates a premature translation stop signal p.Gln1609Ter in the ARID1B gene. The variant was observed in heterozygous state in an individual affected with motor and intellectual delay. Loss-of-function variants are reported in patients with Coffin-Siris syndrome 1, 135900. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.