ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) (rs1592224349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000857241 SCV000999828 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV000857241 SCV001541730 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2020-02-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 337 of the ACVRL1 protein (p.Leu337Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine 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, 16690726). ClinVar contains an entry for this variant (Variation ID: 695029). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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