ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.704C>T (p.Thr235Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351216 SCV001545663 uncertain significance Hereditary hemorrhagic telangiectasia 2020-07-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 235 of the ENG protein (p.Thr235Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ENG-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ENG protein function. 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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