Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001263555 | SCV003786522 | pathogenic | Exostoses, multiple, type 2 | 2022-01-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects EXT2 function (PMID: 30806661). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 983552). This missense change has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 30806661; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 351 of the EXT2 protein (p.Pro351Leu). |
OMIM | RCV001263555 | SCV001441616 | pathogenic | Exostoses, multiple, type 2 | 2020-11-06 | no assertion criteria provided | literature only |