ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.1A>G (p.Met1Val) (rs143951267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000006496 SCV000768797 pathogenic Diamond-Blackfan anemia 10 2017-11-15 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). This variant has been reported to be de novo in several individuals affected with Diamond-Blackfan anemia (PMID: 20116044, 24942156, 26136524). ClinVar contains an entry for this variant (Variation ID: 6122). Loss-of-function variants in RPS26 are known to be pathogenic (PMID: 20116044, 23718193). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006496 SCV000026679 pathogenic Diamond-Blackfan anemia 10 2010-02-12 no assertion criteria provided literature only

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