ClinVar Miner

Submissions for variant NC_000009.11:g.(?_130605373)_(130605524_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463589 SCV000563862 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2016-05-26 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 2 of the ENG gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product because it would be out-of-frame. While this particular variant has not been reported in the literature, truncating variants in ENG are known to be pathogenic (PMID: 21158752, 12673790). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.

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