ClinVar Miner

Submissions for variant NC_000012.11:g.(?_52306259)_(52307877_?)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 RCV001953890 SCV002238980 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-07-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-5 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 5 of the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant has not been reported in the literature in individuals affected with ACVRL1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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