ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)

dbSNP: rs373125283
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494050 SCV000583364 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NOTCH1 gene. The D571N variant has not been published as pathogenic or been reported as benign to our knowledge. Additionally, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D571N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position not conserved across species and asparagine (N) is the wild-type residue at this position in at least one non-mammalian species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541112 SCV000659379 benign Adams-Oliver syndrome 5 2022-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000541112 SCV002553939 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270591 SCV002553940 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404296 SCV002714691 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-12 criteria provided, single submitter clinical testing The p.D571N variant (also known as c.1711G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1711. The aspartic acid at codon 571 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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