ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)

dbSNP: rs1060503240
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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 RCV000470739 SCV000552405 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2016-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This sequence change deletes 2 nucleotides from exon 5 of the ACVRL1 mRNA (c.623_624delTG), causing a frameshift at codon 208. This creates a premature translational stop signal (p.Val208Glyfs*16) and is expected to result in an absent or disrupted protein product.

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