ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.547A>G (p.Met183Val)

dbSNP: rs1830603171
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036706 SCV001200083 uncertain significance Hereditary hemorrhagic telangiectasia 2019-12-08 criteria provided, single submitter clinical testing 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. 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 valine 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. 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 methionine with valine at codon 183 of the ENG protein (p.Met183Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine.

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