ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro) (rs1586437186)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics,Children's Hospital New Orleans RCV000790844 SCV000930018 uncertain significance CHARGE association 2019-07-29 criteria provided, single submitter clinical testing The c.5243 T>C (p.Leu1748Pro) variant was observed de novo in a neonate with clinical diagnostic features of CHARGE syndrome based on the criteria set forth by both Blake et al. (1998) and Verloes (2005), including choanal atresia, facial palsy, and malformed internal and external ears. To our knowledge, this variant has not previously been published in the literature, and according to the Genome Aggregation Database (https://gnomad.broadinstitute.org), there are no reported variants at this locus. The variant is currently classified as a VOUS as it has not been shown to be benign or pathogenic; however, in-silico analyses support a deleterious effect.

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