ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3096_3100del (p.Lys1033fs) (rs1131692263)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000496047 SCV000584044 likely pathogenic Coffin-Siris syndrome 1 2017-07-25 criteria provided, single submitter clinical testing The ARID1B gene is one of 5 genes known to cause Coffis-Siris Syndrome 1 when mutated. The c.3096_3100delCAAAG (p.Lys1033ArgfsTer32) is a novel frameshift alteration leading to a premature termination codon. This deletion was not found in the 1000 Genomes, Exome Variant Server (EVS) or ExAC databases. Thus, it is presumed to be rare. The Lys1033 amino acid residue is highly conserved. Although this particular variant has not been reported in the literature, pathogenic similar alteration are reported (Hoyer et al. 2012). Based on the combined evidence, this variant is classified as likely pathogenic for Coffin-Siris Syndrome 1.

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