ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)

gnomAD frequency: 0.00001  dbSNP: rs1420968156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940500 SCV002193941 uncertain significance Adams-Oliver syndrome 5 2021-05-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NOTCH1-related conditions. This sequence change replaces aspartic acid with asparagine at codon 869 of the NOTCH1 protein (p.Asp869Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
AiLife Diagnostics, AiLife Diagnostics RCV002223326 SCV002501045 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001940500 SCV002553541 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271309 SCV002553542 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651824 SCV005142227 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-12-04 criteria provided, single submitter clinical testing The c.2605G>A (p.D869N) alteration is located in exon 17 (coding exon 17) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 2605, causing the aspartic acid (D) at amino acid position 869 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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