ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) (rs869312911)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000210457 SCV000266559 pathogenic Lehman syndrome criteria provided, single submitter research
GeneDx RCV000426246 SCV000517377 pathogenic not provided 2015-06-16 criteria provided, single submitter clinical testing The Y2221X variant in the NOTCH3 gene has been reported previously as a de novo finding in anindividual with features associated with lateral meningocele syndrome (Gripp et al., 2015). This variant ispredicted to cause loss of normal protein function through protein truncation and was not observed inapproximately 6200 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. We interpret Y2221X as a pathogenic variant.
GeneReviews RCV000210457 SCV000282676 pathogenic Lehman syndrome 2016-05-10 no assertion criteria provided literature only
OMIM RCV000210457 SCV000243862 pathogenic Lehman syndrome 2015-02-01 no assertion criteria provided literature only

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