ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320257 SCV001511037 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 246 of the ACVRL1 protein (p.Tyr246Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs755026232, ExAC 0.002%). This variant has not been reported in the literature in individuals with ACVRL1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACVRL1 protein function. 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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