ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg)

dbSNP: rs895972070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754255 SCV001987289 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV002539852 SCV003439835 benign Adams-Oliver syndrome 5 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040055 SCV004990184 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-01 criteria provided, single submitter clinical testing The c.997A>C (p.S333R) alteration is located in exon 6 (coding exon 6) of the NOTCH1 gene. This alteration results from a A to C substitution at nucleotide position 997, causing the serine (S) at amino acid position 333 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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