ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002842824 SCV003215926 uncertain significance Exostoses, multiple, type 2 2022-06-23 criteria provided, single submitter clinical testing 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 633 of the EXT2 protein (p.Phe633Ser). This variant is present in population databases (no rsID available, gnomAD 0.04%).
Baylor Genetics RCV002842824 SCV004192819 uncertain significance Exostoses, multiple, type 2 2023-08-02 criteria provided, single submitter clinical testing

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