ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.952T>C (p.Cys318Arg)

dbSNP: rs2135020224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001973589 SCV002260338 pathogenic Exostoses, multiple, type 2 2023-08-17 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1474718). This missense change has been observed in individual(s) with hereditary multiple osteochondromas (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 318 of the EXT2 protein (p.Cys318Arg).

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