ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003400372 SCV004103856 likely pathogenic EXT1-related disorder 2023-10-06 criteria provided, single submitter clinical testing The EXT1 c.301G>T variant is predicted to result in premature protein termination (p.Glu101*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. A similar loss of function variant (c.301del, p.Glu101Serfs∗35) has been reported in individuals with hereditary multiple osteochondromas (Table 1, Fusco et al. 2019. PubMed ID: 30806661). Nonsense variants in EXT1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989842 SCV004806283 likely pathogenic Exostoses, multiple, type 1 2024-03-25 criteria provided, single submitter clinical testing

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