ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)

gnomAD frequency: 0.00004  dbSNP: rs200871631
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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 RCV000463462 SCV000548915 benign Adams-Oliver syndrome 5 2022-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001546754 SCV001766332 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing Has not been previously published in association with connective tissue disorders 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# 409037; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 29200162)
Genome-Nilou Lab RCV000463462 SCV002553495 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270494 SCV002553496 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539948 SCV004774838 likely benign NOTCH1-related disorder 2023-03-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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