ClinVar Miner

Submissions for variant NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) (rs104894189)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638824 SCV000760376 pathogenic Diamond-Blackfan anemia 2018-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg16*) in the RPS24 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 reported in an individual affected with Diamond-Blackfan anemia (PMID: 17186470). ClinVar contains an entry for this variant (Variation ID: 7246). Loss-of-function variants in RPS24 are known to be pathogenic (PMID: 17186470, 20960466). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007668 SCV000027869 pathogenic Diamond-Blackfan anemia 3 2006-12-01 no assertion criteria provided literature only

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