ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) (rs1064796983)

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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 RCV000621478 SCV000739407 uncertain significance Cardiovascular phenotype 2016-04-05 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,In silico models in agreement (benign)
Centre of Medical Genetics, University of Antwerp RCV000662262 SCV000747186 uncertain significance Adams-Oliver syndrome 5 2017-12-01 criteria provided, single submitter research
GeneDx RCV000484133 SCV000574279 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing The L1818V variant has not been published as pathogenic or been reported as benign to our knowledge. The L1818V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals. Nevertheless, the L1818V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Lastly, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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