ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7570-1G>A (rs863223319)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418665 SCV000517382 pathogenic not provided 2015-06-16 criteria provided, single submitter clinical testing The c.7570-1G>A variant in the ANKRD11 gene has been previously reported in three individuals froma single family in association with macrodontia, dysmorphic facial features, low anterior and posteriorhairlines, short stature, seizures, mild-to-moderate intellectual disability, delayed bone age, costovertebralanomalies, hand findings and cryptochidism. One of the individuals was also reported with mildsensorineural hearing loss (Sirmaci et al., 2011). This splice site variant destroys the canonical spliceacceptor site in intron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormalmessage that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if themessage is used for protein translation. The c.7570-1G>A variant was not observed in approximately6500 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.7570-1G>A as a pathogenic variant.

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