ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5441G>C (p.Gly1814Ala)

dbSNP: rs768161812
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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 RCV002349609 SCV002649076 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-07-07 criteria provided, single submitter clinical testing The p.G1814A variant (also known as c.5441G>C), located in coding exon 29 of the NOTCH1 gene, results from a G to C substitution at nucleotide position 5441. The glycine at codon 1814 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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