ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.89del (p.Phe30fs)

dbSNP: rs2134965481
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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 RCV001939416 SCV002231142 pathogenic Exostoses, multiple, type 2 2023-05-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe30Serfs*29) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454141). This variant has not been reported in the literature in individuals affected with EXT2-related conditions.

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