ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235591 SCV001408282 uncertain significance Hereditary hemorrhagic telangiectasia 2019-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 197 of the ENG protein (p.Arg197Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs770898485, ExAC 0.01%). This variant has not been reported in the literature in individuals with ENG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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