ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)

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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 RCV002391777 SCV002699757 uncertain significance Diamond-Blackfan anemia 2016-09-13 criteria provided, single submitter clinical testing The p.C47W variant (also known as c.141C>G), located in coding exon 2 of the RPL35A gene, results from a C to G substitution at nucleotide position 141. The cysteine at codon 47 is replaced by tryptophan, 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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