ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) (rs779880917)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655270 SCV000777200 uncertain significance Adams-Oliver syndrome 5 2018-01-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1906 of the NOTCH1 protein (p.Ala1906Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NOTCH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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