ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)

dbSNP: rs1830304920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312394 SCV001502847 uncertain significance Hereditary hemorrhagic telangiectasia 2020-09-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ENG-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 582 of the ENG protein (p.Cys582Gly). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and glycine.

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