ClinVar Miner

Submissions for variant NC_000012.12:g.(?_51912465)_(51912545_?)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 RCV001031098 SCV001194404 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant has been observed in an individual affected with clinical features of hereditary hemorrhagic telangiectasia (Invitae). This variant is a gross deletion of the genomic region encompassing exon 2 of the ACVRL1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the ACVRL1 gene. This is expected to result in an absent or disrupted protein product.

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