ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) (rs774808496)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768033 SCV000898860 uncertain significance Aortic valve disorder; Adams-Oliver syndrome 5 2018-11-02 criteria provided, single submitter clinical testing NOTCH1 NM_017617.5 exon 26 p.Arg1662Gln (c.4985G>A): This variant has not been reported in the literature and is not present in large control databases. This variant amino acid Glutamine (Gln) is present in several species, including multiple mammals, and it is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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