ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.626-9G>A

dbSNP: rs1940780208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063782 SCV001228643 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2020-11-14 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ACVRL1 gene. It does not directly change the encoded amino acid sequence of the ACVRL1 protein. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with hereditary hemorrhagic telangiectasia (Invitae).

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