ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2252A>C (p.Asp751Ala)

dbSNP: rs1843215798
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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 RCV004035425 SCV001445013 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-04-06 criteria provided, single submitter clinical testing The c.2252A>C (p.D751A) alteration is located in coding exon 14 of the NOTCH1 gene. This alteration results from an A to C substitution at nucleotide position 2252, causing the aspartic acid (D) at amino acid position 751 to be replaced by an alanine (A). Based on data from the Genome Aggregation Database (gnomAD), the NOTCH1 c.2252A>C alteration was not observed, with coverage at this position. The p.D751 amino acid is conserved in available vertebrate species. The p.D751A alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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