ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1024G>A (p.Ala342Thr)

gnomAD frequency: 0.00001  dbSNP: rs2133370909
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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 RCV002380566 SCV002695455 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-19 criteria provided, single submitter clinical testing The p.A342T variant (also known as c.1024G>A), located in coding exon 6 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1024. The alanine at codon 342 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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