ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser)

gnomAD frequency: 0.00001  dbSNP: rs749988739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553375 SCV000659429 benign Adams-Oliver syndrome 5 2022-08-31 criteria provided, single submitter clinical testing
GeneDx RCV002281111 SCV002569754 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing Has been reported as a variant of uncertain significance in a patient with BAV and TAAD (Proost et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25907466)

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