ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg)

gnomAD frequency: 0.00019  dbSNP: rs201613894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537847 SCV000536618 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing Has not been previously published in association with a NOTCH1-related phenotype to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23860447, 24113472, 33918692, 24728327, 33735874)
Labcorp Genetics (formerly Invitae), Labcorp RCV000539993 SCV000659485 likely benign Adams-Oliver syndrome 5 2024-01-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660177 SCV000782171 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649071 SCV005142236 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-10 criteria provided, single submitter clinical testing The c.6733G>A (p.G2245R) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 6733, causing the glycine (G) at amino acid position 2245 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ITMI RCV000121701 SCV000085899 not provided not specified 2013-09-19 no assertion provided reference population

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