ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1867A>C (p.Asn623His)

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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 RCV004643968 SCV005142223 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-07 criteria provided, single submitter clinical testing The p.N623H variant (also known as c.1867A>C), located in coding exon 11 of the NOTCH1 gene, results from an A to C substitution at nucleotide position 1867. The asparagine at codon 623 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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