ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.940-11G>A (rs776743373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000338582 SCV000329445 pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing The c.940-11 G>A splice site variant in the OCRL gene has been previously reported in association with Lowe syndrome (Hichri et al., 2011; Recker et al., 2015; Montjean et al., 2015; Nakanishi et al., 2017). This pathogenic variant is predicted to lead to the creation of a new cryptic splice acceptor site upstream of the natural splice acceptor site in intron 10, and is expected to lead to abnormal gene splicing. The c.940-11 G>A variant is not observed in large population cohorts (Lek et al., 2016). Functional studies have shown that the c.940-11 G>A results in a significant decrease in both OCRL-1 protein levels and activity in comparison to wild type (Montjean et al., 2015). We interpret c.940-11 G>A as a pathogenic variant.
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine RCV000590981 SCV000583551 pathogenic Dent disease 2; Lowe syndrome 2017-07-13 no assertion criteria provided clinical testing 9 bp of AACTCATAG insertion between Exon 10 and 11 was confirmed by RT-PCR as a result of activating a novel splicing acceptor site by both patient's sample and minigene assay.

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