ClinVar Miner

Submissions for variant NM_001080442.2(SLC38A8):c.388+5G>A (rs760391436)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434287 SCV000524588 likely pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing The c.388+5G>A variant in the SLC38A8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to damage the natural splice donor site in intron 5, and is expected to cause abnormal gene splicing. The c.388+5G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.388+5G>A as a likely pathogenic variant.
Rui Chen Lab,Baylor College of Medicine RCV000515654 SCV000579411 likely pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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