ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003062180 SCV003440907 likely pathogenic Multiple congenital exostosis 2022-12-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EXT1 protein function. This missense change has been observed in individual(s) with multiple exostoses and/or multiple osteochondromas (PMID: 19810120, 23262345, 29126381, 30334991; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 220 of the EXT1 protein (p.Ser220Asn).

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