ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.822G>A (p.Trp274Ter) (rs757645341)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231890 SCV000282682 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 274 (p.Trp274*). It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACVRL1 are known to be pathogenic. This particular variant has been reported in the literature in an individual tested for suspected hereditary hemorrhagic telangiectasia (HHT) (PMID: 21158752). ClinVar contains an entry for this variant (Variation ID: 236553). For these reasons, this variant has been classified as Pathogenic.

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