ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.224_225del (p.Val75fs)

dbSNP: rs1555208596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559583 SCV000648188 likely pathogenic Diamond-Blackfan anemia 10 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val75Glufs*15) in the RPS26 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the RPS26 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPS26-related conditions. ClinVar contains an entry for this variant (Variation ID: 470476). 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000559583 SCV001369992 pathogenic Diamond-Blackfan anemia 10 2018-11-20 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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