ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5854G>A (p.Ala1952Thr)

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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 RCV004823984 SCV005456595 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-09-08 criteria provided, single submitter clinical testing The p.A1952T variant (also known as c.5854G>A), located in coding exon 31 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5854. The alanine at codon 1952 is replaced by threonine, 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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