ClinVar Miner

Submissions for variant NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697276 SCV005198079 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
OMIM RCV003228754 SCV003925586 pathogenic Diamond-Blackfan anemia 12 2023-05-18 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003973781 SCV004789588 pathogenic RPL15-related disorder 2023-10-24 no assertion criteria provided clinical testing The RPL15 c.242dupA variant is predicted to result in premature protein termination (p.Tyr81*). This variant was reported in patients with Diamond-Blackfan anemia (DBA) from three unrelated families and functional data suggest this variant alters pre-rRNA levels and impairs proper ribosomal subunit biogenesis (Wlodarski et al. 2018. PubMed ID: 29599205). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in RPL15 are expected to be pathogenic. This variant is interpreted as pathogenic.

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