ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.742_743del (p.Arg248fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719525 SCV005325752 pathogenic not provided 2024-03-05 criteria provided, single submitter clinical testing Frameshift 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: 18976157)
Labcorp Genetics (formerly Invitae), Labcorp RCV005103588 SCV005835698 pathogenic Multiple congenital exostosis 2024-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg248Glyfs*40) 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 multiple osteochondromatosis (PMID: 18976157). This variant is also known as c.742_743delAG (p.R248fs). For these reasons, this variant has been classified as Pathogenic.

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