ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.373G>C (p.Val125Leu)

dbSNP: rs1564456745
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243487 SCV001416651 uncertain significance Hereditary hemorrhagic telangiectasia 2019-11-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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. This variant has not been reported in the literature in individuals with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 125 of the ENG protein (p.Val125Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.

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