ClinVar Miner

Submissions for variant NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys)

dbSNP: rs2101877556
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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 RCV002025541 SCV002293736 uncertain significance Radial aplasia-thrombocytopenia syndrome 2020-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 160 of the RBM8A protein (p.Arg160Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon. 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of thrombocytopenia-absent radius syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency).

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