ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1030_1048+18del

dbSNP: rs1940812948
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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 RCV001037493 SCV001200909 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-08-06 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 7 (c.1030_1048+18del) of the ACVRL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in an individual with clinical features of hereditary hemorrhagic telangiectasia (Invitae). Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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