ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)

dbSNP: rs1131691339
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198668 SCV001369663 pathogenic Coffin-Siris syndrome 1 2019-10-22 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.
Ambry Genetics RCV001265674 SCV001443841 pathogenic Inborn genetic diseases 2017-11-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533083 SCV001748903 pathogenic ARID1B-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001198668 SCV002054265 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV003229021 SCV003925995 pathogenic not provided 2023-05-16 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23815551, 30349098)

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