ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn)

gnomAD frequency: 0.00003  dbSNP: rs763217096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808349 SCV000948456 benign Adams-Oliver syndrome 5 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028644 SCV004990170 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-17 criteria provided, single submitter clinical testing The c.2725G>A (p.D909N) alteration is located in exon 17 (coding exon 17) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 2725, causing the aspartic acid (D) at amino acid position 909 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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