ClinVar Miner

Submissions for variant NC_000009.12:g.(?_127843088)_(127843251_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531669 SCV000629540 pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2017-06-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the ENG gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic. A similar deletion of exon 2 has been reported in the literature in patients with personal and family history of epistaxis and telangiectasia and/or arteriovenous malformations (PMID: 20414677). For these reasons, this variant has been classified as Pathogenic.

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