ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)

gnomAD frequency: 0.00001  dbSNP: rs767886377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211817 SCV001383376 benign Adams-Oliver syndrome 5 2022-07-26 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002069303 SCV002495876 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-03-30 criteria provided, single submitter clinical testing NOTCH1 NM_017617.4 exon 17 p.Ala882Thr (c.2644G>A): This variant has not been reported in the literature but is present in 0.001% (1/64566) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-136510749-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:941939). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome-Nilou Lab RCV001211817 SCV002553536 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271194 SCV002553538 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429900 SCV002743393 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-27 criteria provided, single submitter clinical testing The p.A882T variant (also known as c.2644G>A), located in coding exon 17 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2644. The alanine at codon 882 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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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