ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)

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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 RCV002446061 SCV002734683 uncertain significance Diamond-Blackfan anemia 2017-07-01 criteria provided, single submitter clinical testing The p.R76Q variant (also known as c.227G>A), located in coding exon 3 of the RPL35A gene, results from a G to A substitution at nucleotide position 227. The arginine at codon 76 is replaced by glutamine, an amino acid with highly similar 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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