ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.134T>A (p.Val45Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387924 SCV002694903 uncertain significance Diamond-Blackfan anemia 2017-07-01 criteria provided, single submitter clinical testing The p.V45D variant (also known as c.134T>A), located in coding exon 1 of the RPS10 gene, results from a T to A substitution at nucleotide position 134. The valine at codon 45 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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