ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1378-216C>G (rs111710113)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000754826 SCV001388486 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-06-14 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the ACVRL1 gene. It does not directly change the encoded amino acid sequence of the ACVRL1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with hereditary hemorrhagic telangiectasia (HHT) in a family (PMID: 30244195). ClinVar contains an entry for this variant (Variation ID: 617664). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 30244195). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000754826 SCV000882707 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-02-06 no assertion criteria provided literature only

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