ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)

gnomAD frequency: 0.00007  dbSNP: rs371303106
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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 RCV000549909 SCV000659443 benign Adams-Oliver syndrome 5 2024-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001731787 SCV001983805 uncertain significance not provided 2021-10-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 477929; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)
Genome-Nilou Lab RCV000549909 SCV002553430 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270696 SCV002553431 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330986 SCV002627561 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-07 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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