ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.692dup (p.Thr232fs)

dbSNP: rs1571032029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853337 SCV000996197 pathogenic Diamond-Blackfan anemia 6 2018-09-25 criteria provided, single submitter clinical testing This frameshift variant in exon 6 of 8 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported as a de novo change in an individual with Diamond-Blackfan Anemia (PMID: 19773262). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.692dupT (p.Thr232AsnfsTer10) variant is classified as pathogenic.

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