ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1811del (p.Met604fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003229531 SCV003926492 likely pathogenic Coffin-Siris syndrome 1 2023-05-11 criteria provided, single submitter clinical testing The detected change is not reported in the general population (gnomAD) (as of May 11, 2023). It has not yet been described in the ClinVar database or in the literature. The variant results in a frameshift with a subsequent stop codon. This usually leads either to premature termination of translation or a so-called "nonsense-mediated mRNA decay". In both cases, there is a loss of function of the protein. Intolerance to haploinsufficiency has been described as a pathomechanism for the gene examined. Therefore, a pathogenetic relevance can be assumed with high probability. The variant is currently to be regarded as a "likely pathogenic variant" (ACMG criteria).

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