ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)

gnomAD frequency: 0.00013  dbSNP: rs369067940
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086273 SCV000548923 likely benign Adams-Oliver syndrome 5 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764819 SCV000895970 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000826311 SCV000967894 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170168 SCV001332718 benign Familial thoracic aortic aneurysm and aortic dissection 2018-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000826311 SCV004162053 benign not provided 2022-10-01 criteria provided, single submitter clinical testing NOTCH1: PP2, BS1, BS2
Ambry Genetics RCV001170168 SCV004990164 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-04-03 criteria provided, single submitter clinical testing The c.1699A>G (p.I567V) alteration is located in exon 11 (coding exon 11) of the NOTCH1 gene. This alteration results from a A to G substitution at nucleotide position 1699, causing the isoleucine (I) at amino acid position 567 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ITMI RCV000121657 SCV000085855 not provided not specified 2013-09-19 no assertion provided reference population

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