ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.526-6C>G

dbSNP: rs1438077609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572165 SCV001796757 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343748 SCV002646483 likely pathogenic Cardiovascular phenotype 2017-05-03 criteria provided, single submitter clinical testing The c.526-6C>G intronic variant results from a C to G substitution 6 nucleotides upstream from coding exon 4 in the ACVRL1 gene. This variant co-segregated with hereditary hemorrhagic telangiectasia (HHT) in one family tested in our laboratory, and it has also been determined to be the result of a de novo mutation or germline mosaicism in one family with an isolated case suspected of having HHT (Ambry internal data). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. In addition, this variant was not reported in the gnomAD database, with coverage at this position. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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