ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.2T>C (p.Met1Thr)

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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 RCV005135973 SCV005765000 pathogenic Multiple congenital exostosis 2024-08-27 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the EXT1 mRNA. The next in-frame methionine is located at codon 100. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 17301954, 19810120; internal data). For these reasons, this variant has been classified as Pathogenic.

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