ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6699C>A (p.His2233Gln)

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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 RCV004821515 SCV005458459 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-08 criteria provided, single submitter clinical testing The c.6699C>A (p.H2233Q) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 6699, causing the histidine (H) at amino acid position 2233 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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