ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003602862 SCV004508808 uncertain significance Exostoses, multiple, type 2 2023-04-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs752001201, gnomAD 0.0009%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 272 of the EXT2 protein (p.Leu272Phe).

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