ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr)

gnomAD frequency: 0.00001  dbSNP: rs753106233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315081 SCV000739408 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-03-25 criteria provided, single submitter clinical testing The p.A71T variant (also known as c.211G>A), located in coding exon 3 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 211. The alanine at codon 71 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Invitae RCV002532811 SCV003315759 likely benign Adams-Oliver syndrome 5 2023-12-18 criteria provided, single submitter clinical testing

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