ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5714+5G>T (rs61751407)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498660 SCV000589731 likely pathogenic not provided 2016-01-26 criteria provided, single submitter clinical testing The c.5714+5 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.5714+5 G>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.5714+5 G>T either destroys or damages the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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