ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) (rs191645600)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251041 SCV000319755 uncertain significance Cardiovascular phenotype 2019-10-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000525275 SCV000659441 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660162 SCV000782156 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121685 SCV000966705 uncertain significance not specified 2018-02-14 criteria provided, single submitter clinical testing The p.Pro1390Thr (NM_017617.3 c.4168C>A) variant in NOTCH1 has been reported in 2 individuals with bicuspid aortic valve disease (McKellar 2007 and Girdauskas 2 017), and has been identified in 0.1% (126/117,504) of European chromosomes by t he Genome Aggregation Database (gnomAD,; dbSNP rs191645600). It has also been reported in ClinVar (Variation ID#134935). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro1390Thr variant is uncertain.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000984478 SCV001021975 uncertain significance Congenital heart defects 2019-12-06 criteria provided, single submitter clinical testing
ITMI RCV000121685 SCV000085883 not provided not specified 2013-09-19 no assertion provided reference population

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