ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys)

gnomAD frequency: 0.00009  dbSNP: rs200893930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312815 SCV000739361 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-03-25 criteria provided, single submitter clinical testing The c.7645C>T (p.R2549C) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 7645, causing the arginine (R) at amino acid position 2549 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001417381 SCV001619581 likely benign Adams-Oliver syndrome 5 2024-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001588969 SCV001823466 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918, 28074886, 24728327, 28880023)
ITMI RCV000121698 SCV000085896 not provided not specified 2013-09-19 no assertion provided reference population

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