ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1054C>T (p.Gln352Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003427783 SCV004108110 likely pathogenic EXT1-related disorder 2022-12-22 criteria provided, single submitter clinical testing The EXT1 c.1054C>T variant is predicted to result in premature protein termination (p.Gln352*). This variant was reported in an individual with multiple osteochondromas (Table S1 - Jennes et al. 2009. PubMed ID: 19810120). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in EXT1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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