ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.165-16_166del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403664 SCV002704169 likely pathogenic Diamond-Blackfan anemia 2015-11-17 criteria provided, single submitter clinical testing The c.165-16_166del18 variant spans the last sixteen nucleotides of intron 2 through the first 2 nucleotides of coding exon 3 in the RPL35A gene. This results in a deletion of 18 nucleotides, including the canonical splice acceptor site. Alterations that disrupt the canonical splice acceptor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). As such, the c.165-16_166del18 variant is classified as likely pathogenic.

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