ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Counseling Department, Research Centre for Medical Genetics RCV003883246 SCV004697512 likely benign Exostoses, multiple, type 1 2024-02-27 criteria provided, single submitter clinical testing The missense variant NM_000127.3:c.844G>A(p.Ala282Thr) in the EXT1 gene was identified in the heterozygous state in the proband, who presented with multiple osteochondromas, alongside a frameshift variant NM_000127.3:c.347del(p.Val116AlafsTer20) in trans position. The frameshift variant was inherited from affected mother. The p.Ala282Thr variant was not observed in population databases and did not segregate with the disease, as it was inherited from the healthy father. Based on segregation study result we classified it as likely benign variant (PM2, BS4, BP2)

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