ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.164+1G>A

dbSNP: rs113752862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045886 SCV001209760 likely pathogenic Diamond-Blackfan anemia 5 2021-12-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPL35A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the RPL35A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPL35A are known to be pathogenic (PMID: 18535205, 25946618). ClinVar contains an entry for this variant (Variation ID: 843293). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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