ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337873 SCV004048252 uncertain significance Diamond-Blackfan anemia 3 criteria provided, single submitter clinical testing The missense variant in c.155C>T(p.Pro52Leu) in RPS24 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro52Leu variant is reported with the allele frequency of 0.0003992% in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Pro at position 52 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Pro52Leu in RPS24 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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