ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)

dbSNP: rs1554233122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596725 SCV000704042 pathogenic not provided 2016-12-07 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470920 SCV002768954 pathogenic Coffin-Siris syndrome 1 2022-02-02 criteria provided, single submitter clinical testing A heterozygous deletion and insertion variant was identified, NM_020732.3(ARID1B):c.3778_3780delinsAG in exon 15 of 20 of the ARID1B gene. This variant is predicted to cause a frameshift from amino acid position 1260 introducing a stop codon 5 residues downstream, NP_065783.3(ARID1B):p.(Tyr1260Serfs*5), resulting in loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. It has been previously reported in a patient, however no clinical information is available (ClinVar). Other variants predicted to cause NMD have been reported as pathogenic in individuals with Coffin-Siris syndrome (ClinVar, HGMD®). Based on information available at the time of curation, this variant has been classified as PATHOGENIC.

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