ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043578 SCV001207331 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-01-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 306 of the ACVRL1 protein (p.Ala306Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 15024723, Invitae). This variant has been reported to affect ACVRL1 protein function (PMID: 26176610). This variant disrupts the p.Ala306 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been observed in individuals with ACVRL1-related conditions (PMID: 24001356, Invitae), which suggests that this may be a clinically significant amino acid residue. 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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