ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile)

gnomAD frequency: 0.00001  dbSNP: rs751228412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236672 SCV001409405 benign Adams-Oliver syndrome 5 2024-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV005372613 SCV006039493 likely benign Familial thoracic aortic aneurysm and aortic dissection 2025-02-07 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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