ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3368T>A (p.Val1123Glu)

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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 RCV004821510 SCV005458452 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-08-05 criteria provided, single submitter clinical testing The c.3368T>A (p.V1123E) alteration is located in exon 21 (coding exon 21) of the NOTCH1 gene. This alteration results from a T to A substitution at nucleotide position 3368, causing the valine (V) at amino acid position 1123 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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