ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.62_63del (p.Cys21fs)

dbSNP: rs1570566592
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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 RCV000796614 SCV000936134 pathogenic Diamond-Blackfan anemia 2023-08-18 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (PMID: 30503522). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys21Serfs*33) in the RPL11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19061985, 19773262). ClinVar contains an entry for this variant (Variation ID: 643018). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004818035 SCV005439307 pathogenic not provided 2024-06-22 criteria provided, single submitter clinical testing Identified in a cohort of individuals with a clinical diagnosis of Diamond-Blackfan anemia and referred to as chr1:24019152:CTG>C (PMID: 30503522); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30503522, 19773262)

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