ClinVar Miner

Submissions for variant NM_005676.5(RBM10):c.2326C>T (p.Arg776Trp)

dbSNP: rs1556782020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV003096092 SCV002549814 likely pathogenic TARP syndrome 2021-04-06 criteria provided, single submitter clinical testing The RBM10 gene encodes the RNA binding motif protein 10 gene. This gene may have a role in post-transcriptional processing, most probably in mRNA splicing. Mouse studies demonstrate that RBM10 product is most strongly expressed in first branchial arch, second branchial arch, and developing limb buds (Johnston et al. 2014). Pathogenic variants in RBM10 are associated with Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava Pierre Robin Syndrome (TARP). However, recent studies have demonstrated significant clinical heterogeneity and variability in the phenotype of TARP with the cardinal features often not presenting (Johnston et al. 2010, Gripp et al. 2011, Johnston et al. 2014, Kumps et al. 2021). This condition is x-linked in males.

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