ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp)

dbSNP: rs756642176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315129 SCV000739497 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-22 criteria provided, single submitter clinical testing The c.2338C>T (p.R780W) alteration is located in exon 14 (coding exon 14) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 2338, causing the arginine (R) at amino acid position 780 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV002531843 SCV003292232 benign Adams-Oliver syndrome 5 2023-10-03 criteria provided, single submitter clinical testing

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