Total submissions: 3
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 |
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. |
Gene |
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) |