ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.969A>C (p.Lys323Asn) (rs771877309)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555026 SCV000639411 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2017-05-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 323 of the ACVRL1 protein (p.Lys323Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. The frequency data for this variant (rs771877309) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a ACVRL1-related disease. 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. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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