ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) (rs554142958)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619674 SCV000739363 uncertain significance Cardiovascular phenotype 2017-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Blueprint Genetics RCV000143939 SCV000188817 uncertain significance Thoracic aortic aneurysm and aortic dissection 2013-11-12 no assertion criteria provided clinical testing
GeneDx RCV000492876 SCV000582265 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NOTCH1 gene. The R938W variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 0.1-0.2% of alleles from individuals of South Asian ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R938W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, this substitution occurs at a position that is not conserved.

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