ClinVar Miner

Submissions for variant NC_000001.10:g.(?_145507647)_(145509231_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633531 SCV000754777 pathogenic Radial aplasia-thrombocytopenia syndrome 2019-12-23 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the RBM8A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Gross deletions of the entire RBM8A gene are included in the critical region of a recurrent microdeletion that spans chromosomal band 1q21.1 and includes additional genes. This microdeletion has been reported in many individuals affected with thrombocytopenia-absent radius (TAR) syndrome and is typically inherited along with an additional hypomorphic variant on the opposite allele (PMID: 17236129, 24220582, 27846804). Loss-of-function variants in RBM8A are known to be pathogenic (PMID: 22366785). For these reasons, this variant has been classified as Pathogenic.

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