ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) (rs1554826860)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553914 SCV000659466 uncertain significance Adams-Oliver syndrome 5 2017-02-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1927 of the NOTCH1 protein (p.Thr1927Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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