ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5093A>T (p.Asp1698Val)

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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 RCV004650101 SCV005142247 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-03 criteria provided, single submitter clinical testing The c.5093A>T (p.D1698V) alteration is located in exon 27 (coding exon 27) of the NOTCH1 gene. This alteration results from a A to T substitution at nucleotide position 5093, causing the aspartic acid (D) at amino acid position 1698 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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