ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003499966 SCV004294762 likely pathogenic Exostoses, multiple, type 2 2023-05-11 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 EXT2 protein function. This missense change has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 19839753; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 133 of the EXT2 protein (p.Leu133Arg).

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