ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)

gnomAD frequency: 0.00001  dbSNP: rs368963607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327683 SCV000341153 uncertain significance not provided 2016-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000327683 SCV001873463 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059219 SCV002455915 likely benign Adams-Oliver syndrome 5 2024-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379140 SCV002700979 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-22 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.

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