ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) (rs376950447)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413932 SCV000492171 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing The N1118Y variant in the NOTCH3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N1118Y variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The N1118Y 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 not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N1118Y as a variant of uncertain significance.

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