ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.188A>C (p.His63Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV004556140 SCV005045271 uncertain significance Diamond-Blackfan anemia 2024-05-13 criteria provided, single submitter curation The heterozygous p.His63Pro variant in RPS19 was identified by our study in one individual with Diamond-Blackfan anemia. This variant had been reported in one individual with Diamond-Blackfan anemia, and was absent from large population studies. (PMID: 27408399). This variant is assumed de novo in the one individual, but maternity and paternity have not been confirmed (PMID: 27408399). The number of reported affected individuals with this variant is slightly greater than expected compared to non-affected individuals with this variant. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.His63Pro variant is uncertain. ACMG/AMP Criteria applied: PS4_Supporting, PM6, PM2_Supporting (Richards 2015).

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