ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter)

dbSNP: rs1954373394
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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 RCV001041516 SCV001205137 pathogenic Exostoses, multiple, type 2 2024-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr252*) 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 premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 17041877). ClinVar contains an entry for this variant (Variation ID: 839699). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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