ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.312+1G>C

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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 RCV002320488 SCV002607924 likely pathogenic Diamond-Blackfan anemia 2016-12-11 criteria provided, single submitter clinical testing The c.312+1G>C intronic variant results from a G to C substitution one nucleotide after coding exon 3 of the RPS26 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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