ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)

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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 RCV002446068 SCV002735470 uncertain significance Diamond-Blackfan anemia 2014-09-16 criteria provided, single submitter clinical testing The p.R76P variant (also known as c.227G>C), located in coding exon 3 of the RPL35a gene, results from a G to C substitution at nucleotide position 227. The arginine at codon 76 is replaced by proline, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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 variant remains unclear.

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