ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)

dbSNP: rs1895918140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202461 SCV001373574 pathogenic Diamond-Blackfan anemia 10 2019-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RPS26-related conditions. This sequence change creates a premature translational stop signal (p.Lys66*) 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). Loss-of-function variants in RPS26 are known to be pathogenic (PMID: 20116044, 23718193). For these reasons, this variant has been classified as Pathogenic.

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