ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.422A>T (p.Asp141Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003082991 SCV003483380 uncertain significance Exostoses, multiple, type 2 2022-01-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 141 of the EXT2 protein (p.Asp141Val). 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. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs764750397, gnomAD 0.002%).
Revvity Omics, Revvity RCV003491244 SCV004234732 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing

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