ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)

gnomAD frequency: 0.00001  dbSNP: rs756362905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815309 SCV000955758 benign Adams-Oliver syndrome 5 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV002305542 SCV002599747 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Ambry Genetics RCV002453853 SCV002616435 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-02-18 criteria provided, single submitter clinical testing The c.3632G>A (p.R1211Q) alteration is located in exon 22 (coding exon 22) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 3632, causing the arginine (R) at amino acid position 1211 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002501119 SCV002791161 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-04 criteria provided, single submitter clinical testing

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