ClinVar Miner

Submissions for variant NM_005105.5(RBM8A):c.336_342+2del

dbSNP: rs1648166006
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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 RCV001053894 SCV001218178 likely pathogenic Radial aplasia-thrombocytopenia syndrome 2019-04-27 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 4 (c.336_342+2del) of the RBM8A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RBM8A-related conditions. Loss-of-function variants in RBM8A are known to be pathogenic (PMID: 17236129, 22366785). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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