ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter)

dbSNP: rs1554826355
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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 RCV002315124 SCV000739492 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-07-25 criteria provided, single submitter clinical testing The p.Q2480* variant (also known as c.7438C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7438. This changes the amino acid from a glutamine to a stop codon within coding exon 34. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of NOTCH1, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 76 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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