ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg)

gnomAD frequency: 0.00001  dbSNP: rs773902766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050819 SCV001214945 likely benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150380 SCV003837919 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243436 SCV003943769 uncertain significance Inborn genetic diseases 2023-04-12 criteria provided, single submitter clinical testing The c.2869G>A (p.G957R) alteration is located in exon 18 (coding exon 18) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 2869, causing the glycine (G) at amino acid position 957 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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