ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)

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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 RCV004771626 SCV005382249 uncertain significance Diamond-Blackfan anemia 1 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.311T>C(p.Leu104Pro) variant in RPS19 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Leu104Pro variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 104 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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