ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)

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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 RCV002433038 SCV002742575 uncertain significance Diamond-Blackfan anemia 2017-07-01 criteria provided, single submitter clinical testing The p.V84D variant (also known as c.251T>A), located in coding exon 3 of the RPL35A gene, results from a T to A substitution at nucleotide position 251. The valine at codon 84 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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