ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)

gnomAD frequency: 0.00001  dbSNP: rs1260932753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315082 SCV000739411 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-23 criteria provided, single submitter clinical testing The c.1972A>G (p.K658E) alteration is located in exon 12 (coding exon 12) of the NOTCH1 gene. This alteration results from a A to G substitution at nucleotide position 1972, causing the lysine (K) at amino acid position 658 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV000703349 SCV000832246 benign Adams-Oliver syndrome 5 2023-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001561367 SCV001783963 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000703349 SCV002553916 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270881 SCV002553917 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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