ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5366G>A (p.Gly1789Asp) (rs1085307509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489254 SCV000576609 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing The G1789D variant in the NOTCH3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1789D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G1789D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. 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. We interpret G1789D as a variant of uncertain significance.

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