ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)

dbSNP: rs2128366503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381747 SCV001580245 pathogenic not provided 2020-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1362*) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 25674384, 30349098). This variant has not been reported in the literature in individuals with ARID1B-related conditions. This variant is not present in population databases (ExAC no frequency).
Genome Sciences Centre, British Columbia Cancer Agency RCV001815036 SCV002062056 uncertain significance Adrenal cortex carcinoma 2022-01-20 no assertion criteria provided research

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