ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3339+5G>A

dbSNP: rs1057518122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413987 SCV000491533 likely pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing The c.3339+5G>A variant in the RPGRIP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 20, and splice predictor models indicate this variant creates a cryptic splice donor site downstream of the natural splice donor site in intron 20. It is expected to cause abnormal gene splicing. The c.3339+5G>A variant was not observed in approximately 6300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.3339+5G>A variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Rui Chen Lab, Baylor College of Medicine RCV000515742 SCV000579408 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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