ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)

gnomAD frequency: 0.00005  dbSNP: rs548083258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799752 SCV000939428 benign Adams-Oliver syndrome 5 2023-10-29 criteria provided, single submitter clinical testing
GeneDx RCV001555791 SCV001777258 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing Has not been previously reported in association with heritable disorders of connective tissue to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28938622, 35715887, 35105959, 36341199)
Genome-Nilou Lab RCV000799752 SCV002553487 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271041 SCV002553488 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458453 SCV002617325 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-07-31 criteria provided, single submitter clinical testing The p.D1185N variant (also known as c.3553G>A), located in coding exon 22 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3553. The aspartic acid at codon 1185 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and aspargine is the reference amino acid in other 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.

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