ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002975955 SCV003286348 uncertain significance Exostoses, multiple, type 2 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 79 of the EXT2 protein (p.Glu79Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. 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. 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.
Baylor Genetics RCV002975955 SCV004192832 uncertain significance Exostoses, multiple, type 2 2023-06-21 criteria provided, single submitter clinical testing

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