ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)

dbSNP: rs1830569895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371452 SCV001568017 uncertain significance Hereditary hemorrhagic telangiectasia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 297 of the ENG protein (p.Gln297Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ENG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002488170 SCV002792618 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2021-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405621 SCV004106354 uncertain significance ENG-related condition 2023-06-21 criteria provided, single submitter clinical testing The ENG c.889C>G variant is predicted to result in the amino acid substitution p.Gln297Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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