ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.4-1_6del

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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 RCV003507629 SCV004252184 likely pathogenic Diamond-Blackfan anemia 10 2023-11-19 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 2 (c.4-1_6del) of the RPS26 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPS26 are known to be pathogenic (PMID: 20116044, 23718193). This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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