ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1048+2T>G (rs1555153172)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498446 SCV000589885 likely pathogenic not provided 2018-08-13 criteria provided, single submitter clinical testing Although the c.1048+2 T>G variant has not been reported as a pathogenic variant or as a benign variant to our knowledge, it destroys the canonical splice donor site in intron 7 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Several splice site variants in the ACVRL1 gene, including other variants affecting the same splice donor site (c.1048+1 G>A, c.1048+5 G>T and c.1048+5 G>A), have been reported in HGMD in association with HHT (Stenson et al., 2014). Furthermore, the c.1048+2 T>G likely pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.1048+2 T>G in the ACVRL1 gene is expected to be pathogenic

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