ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.1997-6G>A (rs750280055)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494329 SCV000583393 likely pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing The c.1997-6G>A variant in the IGF1R gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is expected to result in the creation of a cryptic splice acceptor site upstream of the natural splice acceptor site in intron 9, and is expected to cause abnormal gene splicing. The c.1997-6G>A 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. The c.1997-6G>A variant is a strong candidate for a pathogenic variant.. However, the possibility it may be a rare benign variant cannot be excluded.

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