ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)

gnomAD frequency: 0.00001  dbSNP: rs763886355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349486 SCV001543834 benign Adams-Oliver syndrome 5 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001527334 SCV001738305 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV001349486 SCV002553933 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271224 SCV002553934 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413825 SCV002716129 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-18 criteria provided, single submitter clinical testing The c.1750G>A (p.V584I) alteration is located in exon 11 (coding exon 11) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 1750, causing the valine (V) at amino acid position 584 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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