ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=)

gnomAD frequency: 0.00003  dbSNP: rs745794855
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697336 SCV000715927 likely benign not provided 2019-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062938 SCV002419482 likely benign Adams-Oliver syndrome 5 2024-02-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062938 SCV002554391 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270738 SCV002554392 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822120 SCV005456612 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-09-15 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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