ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)

dbSNP: rs387907144
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481866 SCV000568233 pathogenic not provided 2022-12-08 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 (gnomAD); This variant is associated with the following publications: (PMID: 30349098, 26350204, 27474218, 34122524, Pagliaroli2021[Functional Study], 31785789, 22426309)
Ambry Genetics RCV000624305 SCV000741656 pathogenic Inborn genetic diseases 2016-07-01 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000024215 SCV000746582 pathogenic Coffin-Siris syndrome 1 2017-02-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000024215 SCV000807315 pathogenic Coffin-Siris syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory as a de novo finding in a 4-year-old female with global delays, autism, dysmorphic features, fifth finger brachydactyly/nail hypoplasia.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000024215 SCV000890069 pathogenic Coffin-Siris syndrome 1 2017-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000024215 SCV000893703 pathogenic Coffin-Siris syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533116 SCV001748936 pathogenic ARID1B-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000024215 SCV002054276 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000024215 SCV000045506 pathogenic Coffin-Siris syndrome 1 2012-03-18 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004737163 SCV005353418 pathogenic ARID1B-related disorder 2024-07-03 no assertion criteria provided clinical testing The ARID1B c.3223C>T variant is predicted to result in premature protein termination (p.Arg1075*). This variant has been reported in individual(s) with Coffin-Siris syndrome (see for example, Santen et al 2012. PubMed ID: 22426309). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in ARID1B are expected to be pathogenic. This variant is interpreted as pathogenic.

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