ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)

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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 RCV002953883 SCV003274525 uncertain significance Exostoses, multiple, type 2 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 591 of the EXT2 protein (p.Ser591Pro). This variant is present in population databases (rs370187162, gnomAD 0.0008%). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV005045098 SCV005683563 uncertain significance Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2024-02-27 criteria provided, single submitter clinical testing

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