ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) (rs104894716)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237459 SCV001410220 pathogenic Diamond-Blackfan anemia 2019-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp33*) in the RPS19 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 individuals with clinical features of Diamond-Blackfan anemia (PMID: 18768533, 10598818). This variant is also described as G120A in the literature. ClinVar contains an entry for this variant (Variation ID: 6315). This variant has been reported to affect RPS19 protein function (PMID: 18768533). Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000033184 SCV000057020 pathogenic Diamond-Blackfan anemia 1 1999-11-01 no assertion criteria provided literature only

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