ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059724 SCV001224366 pathogenic Hereditary hemorrhagic telangiectasia 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 165 of the ENG protein (p.Pro165Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 12673790). In at least one individual the variant was observed to be de novo. This variant has been reported to affect ENG protein function (PMID: 22022569). For these reasons, this variant has been classified as Pathogenic.

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