ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.459_462del (p.Val154fs)

dbSNP: rs1954088614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059704 SCV001224342 pathogenic Exostoses, multiple, type 2 2022-04-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with hereditary multiple osteochondromas (PMID: 23262345, 24496678, 28922105). This variant is also known as c.455_458del. ClinVar contains an entry for this variant (Variation ID: 854619). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val154Profs*115) 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).

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