ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.984C>A (p.His328Gln) (rs1565594410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689543 SCV000817197 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2018-04-06 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 328 of the ACVRL1 protein (p.His328Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with hereditary hemorraghic telangiectasia (PMID: 20414677). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Two additional missense substitutions at this codon (p.His328Pro and p.His328Tyr) have been reported in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 16470589, 24196379). 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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