ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys)

dbSNP: rs2133321530
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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 RCV002353623 SCV002654497 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-13 criteria provided, single submitter clinical testing The p.N2053K variant (also known as c.6159C>A), located in coding exon 33 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 6159. The asparagine at codon 2053 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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