ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=)

gnomAD frequency: 0.00009  dbSNP: rs369070550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378950 SCV000335074 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing
Invitae RCV000378950 SCV001005917 likely benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298336 SCV003999745 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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