ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)

dbSNP: rs1191238988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234386 SCV001407029 pathogenic Exostoses, multiple, type 2 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp394*) 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 osteochondromatosis (PMID: 12490068). ClinVar contains an entry for this variant (Variation ID: 960792). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002462858 SCV002757291 pathogenic not provided 2022-11-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17589361, 29529714, 12490068, 25230886, 30334991, 30730578)

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