ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter)

dbSNP: rs755680047
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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 RCV000811990 SCV000952288 uncertain significance Oculofaciocardiodental syndrome 2018-08-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with BCOR-related disease. This sequence change results in a premature translational stop signal in the BCOR gene (p.Arg1627*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 95 amino acids of the BCOR protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000811990 SCV002764853 pathogenic Oculofaciocardiodental syndrome 2020-12-08 criteria provided, single submitter clinical testing

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