ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)

dbSNP: rs1830597676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262064 SCV001439448 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2018-01-01 criteria provided, single submitter research PM2+PM1+PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002537627 SCV003441488 uncertain significance Hereditary hemorrhagic telangiectasia 2022-06-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 982475). This missense change has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 18673552, 32573726; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 216 of the ENG protein (p.Lys216Glu).

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