ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)

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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 RCV003514872 SCV004308096 pathogenic Diamond-Blackfan anemia 5 2023-07-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RPL35A-related conditions. This sequence change creates a premature translational stop signal (p.Tyr49*) in the RPL35A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPL35A are known to be pathogenic (PMID: 18535205, 25946618).

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