ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)

gnomAD frequency: 0.00001  dbSNP: rs752928106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469574 SCV000548922 likely benign Adams-Oliver syndrome 5 2023-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481433 SCV002779650 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2022-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022714 SCV005027341 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-31 criteria provided, single submitter clinical testing The p.D2020N variant (also known as c.6058G>A), located in coding exon 32 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6058. The aspartic acid at codon 2020 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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