ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)

gnomAD frequency: 0.00016  dbSNP: rs199666126
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557195 SCV000659392 benign Adams-Oliver syndrome 5 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315045 SCV000739421 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-09-26 criteria provided, single submitter clinical testing The p.R731W variant (also known as c.2191C>T), located in coding exon 13 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2191. The arginine at codon 731 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs199666126. Based on data from ExAC, the T allele has an overall frequency of approximately 0.01% (4/29280). Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (3/12400) total alleles studied, having been observed in 0.07% (3/4064) African American alleles. This amino acid position is not 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 variant remains unclear.
GeneDx RCV001731786 SCV001983137 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV000557195 SCV002553576 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270680 SCV002553577 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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