ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) (rs148942765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000191914 SCV000246137 pathogenic Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 2015-05-19 criteria provided, single submitter research
Invitae RCV000167574 SCV001410055 pathogenic Diamond-Blackfan anemia 10 2019-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg87*) in the RPS26 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Diamond-Blackfan anaemia (PMID: 23718193). ClinVar contains an entry for this variant (Variation ID: 187849). Loss-of-function variants in RPS26 are known to be pathogenic (PMID: 20116044, 23718193). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000167574 SCV000218454 pathogenic Diamond-Blackfan anemia 10 2014-09-01 no assertion criteria provided literature only

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