ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7569+1G>A (rs797044890)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190712 SCV000244153 pathogenic Inborn genetic diseases criteria provided, single submitter clinical testing POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000335440 SCV000330492 pathogenic not provided 2016-05-03 criteria provided, single submitter clinical testing TThe c.7569+1G>A pathogenic variant in the ANKRD11 gene has not been published previously as a pathogenic variant nor as a benign variant, to our knowledge. However, this variant has been reported as pathogenic in ClinVar by a different clinical laboratory, although additional evidence is not available (ClinVar SCV000244153.3; Landrum et al., 2015). This splice site variant destroys the canonical splice donor site in intron 10. It is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. The c.7569+1G>A 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. We interpret c.7569+1G>A as a pathogenic variant

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