ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) (rs727503038)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150651 SCV000197992 uncertain significance not specified 2015-12-16 criteria provided, single submitter clinical testing
Invitae RCV000809325 SCV000949472 uncertain significance Hereditary hemorrhagic telangiectasia 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 273 of the ENG protein (p.Thr273Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of hereditary hemorrhagic telangiectasia (Invitae). ClinVar contains an entry for this variant (Variation ID: 163407). 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: "Possibly Damaging"; 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.

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