ClinVar Miner

Submissions for variant NM_000875.5(IGF1R):c.323del (p.Gly108fs) (rs1064793151)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478317 SCV000565069 likely pathogenic not provided 2016-05-09 criteria provided, single submitter clinical testing The c.323delG 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 predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.323delG 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. Based on review of the data in the context of the 2015 ACMG standards and guidelines for the interpretation of sequence variants (Richards et al., 2015), we now interpret c.323delG as a likely pathogenic variant.

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