ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.634G>A (p.Val212Met) (rs370652082)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472454 SCV000546117 uncertain significance Hereditary hemorrhagic telangiectasia 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 212 of the ENG protein (p.Val212Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs370652082, ExAC 0.07%) but has not been reported in the literature in individuals with a ENG-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: Possibly Damaging; Align-GVGD: Class C0). However, the methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In summary, this variant is a rare missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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