ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)

dbSNP: 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 2017-12-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPS24 are known to be pathogenic (PMID: 17186470, 20960466). 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). This variant is not present in population databases (ExAC no frequency). 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.
OMIM RCV000007668 SCV000027869 pathogenic Diamond-Blackfan anemia 3 2006-12-01 no assertion criteria provided literature only

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