ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=)

gnomAD frequency: 0.00029  dbSNP: rs201889382
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001559705 SCV001781994 likely benign not provided 2020-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424981 SCV002727540 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Invitae RCV002569009 SCV003243575 benign Adams-Oliver syndrome 5 2023-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001559705 SCV004162047 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004536181 SCV004711727 likely benign NOTCH1-related disorder 2020-08-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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