ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3984-1G>C (rs1057520709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433340 SCV000517040 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing The c.3984-1 G>C splice site variant in the PCDH15 gene destroys the canonical splice acceptor site inintron 29. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used forprotein translation. The c.3984-1 G>C variant was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. Therefore, we interpret this variant as pathogenic.
Counsyl RCV000671775 SCV000796794 likely pathogenic Usher syndrome, type 1F 2017-12-29 criteria provided, single submitter clinical testing

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