ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)

gnomAD frequency: 0.00014  dbSNP: rs536299678
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464964 SCV000559938 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001704575 SCV000714613 likely benign not provided 2019-04-22 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002313221 SCV000739435 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-07-08 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.
Genome-Nilou Lab RCV000464964 SCV002555171 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270542 SCV002555172 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704575 SCV004162068 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001704575 SCV005228715 likely benign not provided criteria provided, single submitter not provided

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