ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)

gnomAD frequency: 0.00003  dbSNP: rs776610176
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078670 SCV000659454 likely benign Adams-Oliver syndrome 5 2025-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315054 SCV000739473 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-04-26 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.
GeneDx RCV000828009 SCV000969684 likely benign not provided 2021-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001078670 SCV002554331 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270700 SCV002554332 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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