ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.787_789del (p.Ile263del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068930 SCV001234067 pathogenic Hereditary hemorrhagic telangiectasia 2020-09-20 criteria provided, single submitter clinical testing This variant, c.787_789del, results in the deletion of 1 amino acid(s) of the ENG protein (p.Ile263del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 15024723, 16705692, 15712270, 15517393, Invitae). ClinVar contains an entry for this variant (Variation ID: 862246). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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