ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.2T>G (p.Met1Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202198 SCV001373303 pathogenic Diamond-Blackfan anemia 10 2019-10-05 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the RPS26 mRNA. The next in-frame methionine is located at the penultimate codon of the RPS26 gene. This variant is not present in population databases (ExAC no frequency). Disruption of the initiator codon has been observed in individuals with clinical features of Diamond-Blackfan anemia (PMID: 20116044, 21414820, 26136524, 28102861, 29114930). In at least one individual the variant was observed to be de novo. 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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