ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2741A>G (p.Asn914Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004821509 SCV005458451 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-07-09 criteria provided, single submitter clinical testing The c.2741A>G (p.N914S) alteration is located in exon 18 (coding exon 18) of the NOTCH1 gene. This alteration results from a A to G substitution at nucleotide position 2741, causing the asparagine (N) at amino acid position 914 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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