ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)

dbSNP: rs1555841301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383782 SCV001583049 pathogenic Diamond-Blackfan anemia 2020-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg62 amino acid residue in RPS19. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9988267, 12586610, 28102861, 20606162, 20395159). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 62 of the RPS19 protein (p.Arg62Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline.

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