ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) (rs375018022)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493042 SCV000581939 uncertain significance not specified 2017-04-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NOTCH1 gene. The R1633H variant has not been published as pathogenic or been reported as benign to our knowledge. Additionally, this variant is not observed at a significant frequency 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 across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, the R1633H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.
Ambry Genetics RCV000619533 SCV000738412 uncertain significance Cardiovascular phenotype 2016-11-09 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000869038 SCV001010433 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678731 SCV000804903 uncertain significance Shone complex 2016-03-18 no assertion criteria provided clinical testing

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