ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290255 SCV002579512 likely pathogenic Coffin-Siris syndrome 1 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120883 SCV003786481 pathogenic not provided 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1560*) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 25674384, 30349098). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Coffin-Siris syndrome (PMID: 30349098). ClinVar contains an entry for this variant (Variation ID: 1709913). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003120883 SCV004012677 pathogenic not provided 2023-01-09 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 at significant frequency in large population cohorts (gnomAD); Identified in an individual with intellectual disability in published literature, however familial segregation and clinical information were not provided (van der Sluijs PJ et al., 2019); This variant is associated with the following publications: (PMID: 30349098)

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