ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)

dbSNP: rs1811865335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199164 SCV001370160 pathogenic Chondrosarcoma 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PP5,PP4,PP3,PM2,PM4,PVS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001528142 SCV005835696 pathogenic Multiple congenital exostosis 2024-05-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp517*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary multiple osteochondromatosis (PMID: 19344451, 29126381). ClinVar contains an entry for this variant (Variation ID: 932048). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528142 SCV001739353 pathogenic Multiple congenital exostosis 2021-05-20 no assertion criteria provided clinical testing

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