ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) (rs763187824)

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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 RCV000253079 SCV000319684 uncertain significance Cardiovascular phenotype 2015-05-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000764822 SCV000895973 uncertain significance Aortic valve disorder; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000523362 SCV000620987 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NOTCH1 gene. The D259N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The D259N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across most species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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