ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.870del (p.Glu291fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005197078 SCV005842993 pathogenic Exostoses, multiple, type 2 2024-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu291Argfs*41) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). 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. For these reasons, this variant has been classified as Pathogenic.

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