ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)

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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 RCV004521045 SCV005037008 likely pathogenic Diamond-Blackfan anemia 2017-05-03 criteria provided, single submitter clinical testing The p.A57P variant (also known as c.169G>C), located in coding exon 2 of the RPS19 gene, results from a G to C substitution at nucleotide position 169. The alanine at codon 57 is replaced by proline, an amino acid with highly similar properties. This mutation was reported in one individual with Diamond-Blackfan anemia (Orfali KA et al. Br. J. Haematol., 2004 Apr;125:243-52). In addition, in vitro studies showed nearly undetectable mutant protein in HEK293 cells that did not associate with ribosomes (Angelini M et al. Hum. Mol. Genet., 2007 Jul;16:1720-7). Structural analysis revealed that this variant is located in the hydrophobic core of an alpha helix and is predicted to impact folding and stability of the RPS19 protein. (Gregory LA et al. Nucleic Acids Res., 2007 Aug;35:5913-21). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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