ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met)

gnomAD frequency: 0.00002  dbSNP: rs772945824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545808 SCV001765210 uncertain significance not provided 2021-02-03 criteria provided, single submitter clinical testing Observed in an individual with spontaneous coronary artery dissection (Antonutti et al., 2020); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33190788)
Invitae RCV003586297 SCV004277549 benign Adams-Oliver syndrome 5 2024-01-13 criteria provided, single submitter clinical testing

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