ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1129G>A (p.Ala377Thr) (rs1565594969)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697373 SCV000825979 likely pathogenic Hereditary hemorrhagic telangiectasia type 2 2018-06-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 377 of the ACVRL1 protein (p.Ala377Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hereditary hemorrhagic telangiectasia in a family (PMID: 16470589). Experimental studies have shown that this missense change decreases ACVRL1-mediated cell signaling activity (PMID: 16470589). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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