ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.568_570del (p.His190del)

dbSNP: rs1817877188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222709 SCV001394824 uncertain significance Multiple congenital exostosis 2019-05-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid is currently unknown. This variant has not been reported in the literature in individuals with EXT1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.568_570del, results in the deletion of 1 amino acid of the EXT1 protein (p.His190del) but otherwise preserves the integrity of the reading frame.
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001222709 SCV002014766 likely pathogenic Multiple congenital exostosis 2021-11-16 criteria provided, single submitter clinical testing PM2 + PS2 (+/- PM4)

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