ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp)

gnomAD frequency: 0.00004  dbSNP: rs761304479
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053271 SCV001217527 benign Adams-Oliver syndrome 5 2023-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160421 SCV003861105 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-12 criteria provided, single submitter clinical testing The c.3700C>T (p.R1234W) alteration is located in exon 23 (coding exon 23) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 3700, causing the arginine (R) at amino acid position 1234 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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