ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)

gnomAD frequency: 0.00002  dbSNP: rs759749364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699543 SCV000828258 benign Adams-Oliver syndrome 5 2022-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163236 SCV003861103 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-07 criteria provided, single submitter clinical testing The p.A2077T variant (also known as c.6229G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6229. The alanine at codon 2077 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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